11:65318944-65318944 G > A

Classification

Category 2

non_synonymous

CMH MAF

2 / 6955 samples (0.0288%)
2 het., 0 hom. (100%)
2 / 13910 total alleles (0.0144%)

Genes

Consequences
gene: LTBP3 synonym(s): LTBP-3, LTBP2, pp6425, STHAG6, LTBP3, ENSG00000168056

NM_001130144.2 [CDS] Reportable
hgvs_c: NM_001130144.2:c.1550C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 1819
CDS pos: 1550
translation impact: non_synonymous
protein sequence: NP_001123616.1
AA pos: 517
hgvs_p: NP_001123616.1:p.Pro517Leu
blosum: -3
SIFT: deleterious (0.03)
PolyPhen2: benign (0.029)

NM_001164266.1 [CDS]
hgvs_c: NM_001164266.1:c.1199C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 1815
CDS pos: 1199
translation impact: non_synonymous
protein sequence: NP_001157738.1
AA pos: 400
hgvs_p: NP_001157738.1:p.Pro400Leu
blosum: -3

NM_021070.4 [CDS]
hgvs_c: NM_021070.4:c.1550C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 1819
CDS pos: 1550
translation impact: non_synonymous
protein sequence: NP_066548.2
AA pos: 517
hgvs_p: NP_066548.2:p.Pro517Leu
blosum: -3
SIFT: deleterious (0.02)
PolyPhen2: benign (0.031)

dbSNP

rs145001056
GMAF = 0.0001997
TOPMED_MAF = 0.00011945718654434

ClinVar

235669
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_submission_scv = SCV000281431.1

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000233,0.000000,0.000154

ExAC

ExAC
Ethnicity Count / Number MAF
African 0 / 10266 0%
America/Latino 1 / 11524 0.00868%
East Asian 3 / 8634 0.0347%
Finnish 0 / 6412 0%
Non-Finnish 9 / 66050 0.0136%
Other 0 / 884 0%
South Asian 27 / 16444 0.164%
Total MAF 40 / 120214 0.0333%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 2 / 23990 0.00834%
America/Latino 6 / 34414 0.0174%
Ashkenazi Jewish 0 / 10138 0%
East Asian 4 / 18866 0.0212%
Finnish 0 / 25724 0%
Non-Finnish 10 / 126324 0.00792%
Other 0 / 6450 0%
South Asian 41 / 30778 0.133%
Total MAF 63 / 276684 0.0228%


Export Variant

Curation

Likely pathogenic