X-131274145-A-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP7BS1_SupportingBS2
The NM_001555.5(IGSF1):āc.3813T>Gā(p.Val1271Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000256 in 1,209,423 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 10 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001555.5 synonymous
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: 0.0000179 AC: 2AN: 111516Hom.: 0 Cov.: 23 AF XY: 0.0000297 AC XY: 1AN XY: 33698
GnomAD3 exomes AF: 0.0000164 AC: 3AN: 183211Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67685
GnomAD4 exome AF: 0.0000264 AC: 29AN: 1097907Hom.: 0 Cov.: 30 AF XY: 0.0000248 AC XY: 9AN XY: 363265
GnomAD4 genome AF: 0.0000179 AC: 2AN: 111516Hom.: 0 Cov.: 23 AF XY: 0.0000297 AC XY: 1AN XY: 33698
ClinVar
Submissions by phenotype
X-linked central congenital hypothyroidism with late-onset testicular enlargement Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Apr 01, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at