7-77377400-CAAA-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_017439.4(GSAP):c.577-13_577-11delTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.215 in 1,052,978 control chromosomes in the GnomAD database, including 595 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_017439.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.191 AC: 18779AN: 98256Hom.: 1367 Cov.: 0
GnomAD3 exomes AF: 0.168 AC: 16013AN: 95370Hom.: 54 AF XY: 0.165 AC XY: 8747AN XY: 53048
GnomAD4 exome AF: 0.215 AC: 226815AN: 1052978Hom.: 595 AF XY: 0.214 AC XY: 110682AN XY: 518066
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.191 AC: 18794AN: 98260Hom.: 1373 Cov.: 0 AF XY: 0.195 AC XY: 8809AN XY: 45238
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at