chr15-74175370-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005545.4(ISLR):c.512C>T(p.Ala171Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,458,980 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005545.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ISLR | NM_005545.4 | c.512C>T | p.Ala171Val | missense_variant | Exon 2 of 2 | ENST00000249842.8 | NP_005536.1 | |
ISLR | NM_201526.2 | c.512C>T | p.Ala171Val | missense_variant | Exon 2 of 2 | NP_958934.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000322 AC: 8AN: 248518Hom.: 1 AF XY: 0.0000446 AC XY: 6AN XY: 134576
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1458980Hom.: 2 Cov.: 30 AF XY: 0.0000207 AC XY: 15AN XY: 725920
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.512C>T (p.A171V) alteration is located in exon 2 (coding exon 1) of the ISLR gene. This alteration results from a C to T substitution at nucleotide position 512, causing the alanine (A) at amino acid position 171 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at