15:101120526-101120526 A > -

Classification

Category 2

frameshift

CMH MAF

7 / 13144 samples (0.0533%)
7 het., 0 hom. (100%)
7 / 26288 total alleles (0.0266%)

Genes

Consequences
gene: LINS1 synonym(s): LINS1, WINS1, LINS, ENSG00000140471

ENST00000314742.8 [CDS] Reportable
hgvs_c: ENST00000314742.8:c.431del
reference AA: L
variant AA: X
reference codon: tTa
variant codon: ta
cDNA pos: 654
CDS pos: 431
translation impact: frameshift
protein sequence: ENSP00000318423.8
AA pos: 144
hgvs_p: ENSP00000318423.8:p.Leu144TyrfsTer17
blosum: -1

dbSNP

rs764442764
TOPMED_MAF = 0.00004778287461773

ClinVar

445417
clinvar_significance = Likely_pathogenic

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000242,0.000000,0.000160

ExAC

ExAC
Ethnicity Count / Number MAF
African 0 / 9676 0%
America/Latino 0 / 11176 0%
East Asian 0 / 8248 0%
Finnish 0 / 6416 0%
Non-Finnish 3 / 62370 0.00481%
Other 0 / 888 0%
South Asian 0 / 15824 0%
Total MAF 3 / 114598 0.00262%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 2 / 24858 0.00805%
America/Latino 0 / 35278 0%
Ashkenazi Jewish 0 / 10358 0%
East Asian 0 / 19916 0%
Finnish 0 / 25074 0%
Non-Finnish 6 / 128456 0.00467%
Other 1 / 7184 0.0139%
South Asian 0 / 30576 0%
Korean 0 / 3786 0%
Japanese 0 / 152 0%
Other East Asian 0 / 14418 0%
Bulgarian 0 / 2660 0%
Estonian 0 / 4830 0%
North-Western European 5 / 50696 0.00986%
Southern European 0 / 11576 0%
Swedish 1 / 25680 0.00389%
Other non-Finnish European 0 / 33014 0%
Total MAF 9 / 281700 0.00319%


Export Variant

Curation

Likely pathogenic