19-48713735-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001130915.2(MAMSTR):c.945G>C(p.Glu315Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000719 in 1,614,238 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001130915.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAMSTR | NM_001130915.2 | c.945G>C | p.Glu315Asp | missense_variant | 9/10 | ENST00000318083.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAMSTR | ENST00000318083.11 | c.945G>C | p.Glu315Asp | missense_variant | 9/10 | 2 | NM_001130915.2 | P2 | |
MAMSTR | ENST00000594582.1 | c.441G>C | p.Glu147Asp | missense_variant | 6/7 | 1 | |||
MAMSTR | ENST00000356751.8 | c.636G>C | p.Glu212Asp | missense_variant | 7/8 | 2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000591 AC: 9AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000143 AC: 36AN: 251490Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135920
GnomAD4 exome AF: 0.0000732 AC: 107AN: 1461888Hom.: 0 Cov.: 41 AF XY: 0.0000770 AC XY: 56AN XY: 727248
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152350Hom.: 0 Cov.: 33 AF XY: 0.0000671 AC XY: 5AN XY: 74512
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2022 | The c.945G>C (p.E315D) alteration is located in exon 9 (coding exon 8) of the MAMSTR gene. This alteration results from a G to C substitution at nucleotide position 945, causing the glutamic acid (E) at amino acid position 315 to be replaced by an aspartic acid (D). 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