chr12-119130682-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_194286.4(SRRM4):c.619C>T(p.Arg207Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,609,634 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_194286.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SRRM4 | ENST00000267260.5 | c.619C>T | p.Arg207Cys | missense_variant | Exon 8 of 13 | 1 | NM_194286.4 | ENSP00000267260.4 | ||
SRRM4 | ENST00000537597.1 | n.187C>T | non_coding_transcript_exon_variant | Exon 3 of 5 | 4 | |||||
SRRM4 | ENST00000545224.5 | n.394C>T | non_coding_transcript_exon_variant | Exon 7 of 7 | 4 | |||||
SRRM4 | ENST00000641899.1 | n.4C>T | non_coding_transcript_exon_variant | Exon 1 of 4 | ENSP00000493188.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000460 AC: 11AN: 239334Hom.: 0 AF XY: 0.0000383 AC XY: 5AN XY: 130708
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1457356Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 724916
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152278Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74458
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.619C>T (p.R207C) alteration is located in exon 8 (coding exon 8) of the SRRM4 gene. This alteration results from a C to T substitution at nucleotide position 619, causing the arginine (R) at amino acid position 207 to be replaced by a cysteine (C). 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