rs35179844
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_033641.4(COL4A6):c.3373C>T(p.Pro1125Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00662 in 1,210,551 control chromosomes in the GnomAD database, including 317 homozygotes. There are 2,183 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_033641.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0344 AC: 3883AN: 112729Hom.: 167 Cov.: 23 AF XY: 0.0304 AC XY: 1059AN XY: 34885
GnomAD3 exomes AF: 0.0105 AC: 1919AN: 183216Hom.: 74 AF XY: 0.00700 AC XY: 474AN XY: 67702
GnomAD4 exome AF: 0.00375 AC: 4122AN: 1097769Hom.: 150 Cov.: 31 AF XY: 0.00307 AC XY: 1115AN XY: 363127
GnomAD4 genome AF: 0.0345 AC: 3896AN: 112782Hom.: 167 Cov.: 23 AF XY: 0.0306 AC XY: 1068AN XY: 34948
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:2
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Hearing loss, X-linked 6 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at