X-108174500-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_033641.4(COL4A6):c.3078C>T(p.Gly1026Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.251 in 1,208,104 control chromosomes in the GnomAD database, including 30,479 homozygotes. There are 99,687 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_033641.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.268 AC: 29575AN: 110542Hom.: 3293 Cov.: 22 AF XY: 0.263 AC XY: 8631AN XY: 32848
GnomAD3 exomes AF: 0.319 AC: 58149AN: 182244Hom.: 8246 AF XY: 0.303 AC XY: 20245AN XY: 66786
GnomAD4 exome AF: 0.249 AC: 273774AN: 1097504Hom.: 27181 Cov.: 32 AF XY: 0.251 AC XY: 91026AN XY: 363012
GnomAD4 genome AF: 0.268 AC: 29604AN: 110600Hom.: 3298 Cov.: 22 AF XY: 0.263 AC XY: 8661AN XY: 32914
ClinVar
Submissions by phenotype
not specified Benign:2
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. -
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not provided Benign:2
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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