22-40418496-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_020831.6(MRTFA):āc.2242A>Gā(p.Ser748Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.408 in 1,607,588 control chromosomes in the GnomAD database, including 145,842 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S748R) has been classified as Uncertain significance.
Frequency
Consequence
NM_020831.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MRTFA | NM_020831.6 | c.2242A>G | p.Ser748Gly | missense_variant | 12/15 | ENST00000355630.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MRTFA | ENST00000355630.10 | c.2242A>G | p.Ser748Gly | missense_variant | 12/15 | 1 | NM_020831.6 |
Frequencies
GnomAD3 genomes AF: 0.505 AC: 76609AN: 151846Hom.: 23537 Cov.: 32
GnomAD3 exomes AF: 0.384 AC: 93123AN: 242442Hom.: 21434 AF XY: 0.387 AC XY: 50973AN XY: 131676
GnomAD4 exome AF: 0.398 AC: 578924AN: 1455622Hom.: 122237 Cov.: 51 AF XY: 0.399 AC XY: 288978AN XY: 724332
GnomAD4 genome AF: 0.505 AC: 76730AN: 151966Hom.: 23605 Cov.: 32 AF XY: 0.495 AC XY: 36727AN XY: 74254
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at