7-100884392-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_015908.6(SRRT):c.782C>T(p.Thr261Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000422 in 1,613,236 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015908.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000593 AC: 9AN: 151746Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249804Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135180
GnomAD4 exome AF: 0.0000404 AC: 59AN: 1461490Hom.: 0 Cov.: 37 AF XY: 0.0000399 AC XY: 29AN XY: 727036
GnomAD4 genome AF: 0.0000593 AC: 9AN: 151746Hom.: 0 Cov.: 32 AF XY: 0.0000675 AC XY: 5AN XY: 74102
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.782C>T (p.T261M) alteration is located in exon 7 (coding exon 6) of the SRRT gene. This alteration results from a C to T substitution at nucleotide position 782, causing the threonine (T) at amino acid position 261 to be replaced by a methionine (M). 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