1:156108453-156108453 A > C

Classification

Category 3

non_synonymous

CMH MAF

2 / 13843 samples (0.0144%)
2 het., 0 hom. (100%)
2 / 27686 total alleles (0.00722%)

Genes

Consequences
gene: LMNA synonym(s): CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, PRO1, LMNA, ENSG00000160789

NM_001257374.1 [CDS]
hgvs_c: NM_001257374.1:c.1537A>C
reference AA: S
variant AA: R
reference codon: Agc
variant codon: Cgc
cDNA pos: 1581
CDS pos: 1537
translation impact: non_synonymous
protein sequence: NP_001244303.1
AA pos: 513
hgvs_p: NP_001244303.1:p.Ser513Arg
blosum: -1
SIFT: tolerated_low_confidence (0.06)
PolyPhen2: benign (0.198)

NM_170707.3 [CDS] Reportable
hgvs_c: NM_170707.3:c.1873A>C
reference AA: S
variant AA: R
reference codon: Agc
variant codon: Cgc
cDNA pos: 2122
CDS pos: 1873
translation impact: non_synonymous
protein sequence: NP_733821.1
AA pos: 625
hgvs_p: NP_733821.1:p.Ser625Arg
blosum: -1
SIFT: tolerated_low_confidence (0.08)
PolyPhen2: benign (0.216)

NM_170708.3 [CDS]
hgvs_c: NM_170708.3:c.1783A>C
reference AA: S
variant AA: R
reference codon: Agc
variant codon: Cgc
cDNA pos: 2032
CDS pos: 1783
translation impact: non_synonymous
protein sequence: NP_733822.1
AA pos: 595
hgvs_p: NP_733822.1:p.Ser595Arg
blosum: -1
SIFT: tolerated_low_confidence (0.11)
PolyPhen2: possibly_damaging (0.571)

dbSNP

rs398124550
GMAF = 0.0001997
TOPMED_MAF = 0.00007167431192660

ClinVar

96530
clinvar_significance = Uncertain_significance
518817
clinvar_significance = Uncertain_significance
clinvar_disease = Charcot-Marie-Tooth disease

ExAC

ExAC
Ethnicity Count / Number MAF
African 3 / 9368 0.032%
America/Latino 0 / 11184 0%
East Asian 0 / 8492 0%
Finnish 0 / 5696 0%
Non-Finnish 0 / 62548 0%
Other 0 / 836 0%
South Asian 0 / 16172 0%
Total MAF 3 / 114296 0.00262%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 8 / 24566 0.0326%
America/Latino 2 / 35322 0.00566%
Ashkenazi Jewish 0 / 10298 0%
East Asian 0 / 19892 0%
Finnish 0 / 24852 0%
Non-Finnish 0 / 127300 0%
Other 0 / 7172 0%
South Asian 0 / 30576 0%
Korean 0 / 3808 0%
Japanese 0 / 152 0%
Other East Asian 0 / 14372 0%
Bulgarian 0 / 2474 0%
Estonian 0 / 4808 0%
North-Western European 0 / 50146 0%
Southern European 0 / 11482 0%
Swedish 0 / 25950 0%
Other non-Finnish European 0 / 32440 0%
Total MAF 10 / 279978 0.00357%


Export Variant

Curation

Uncertain Significance