rs61741915
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_007351.3(MMRN1):c.519C>A(p.Gly173Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,556 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G173G) has been classified as Benign.
Frequency
Consequence
NM_007351.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MMRN1 | NM_007351.3 | c.519C>A | p.Gly173Gly | synonymous_variant | Exon 1 of 8 | ENST00000264790.7 | NP_031377.2 | |
MMRN1 | NM_001371403.1 | c.519C>A | p.Gly173Gly | synonymous_variant | Exon 2 of 9 | NP_001358332.1 | ||
MMRN1 | XM_047449831.1 | c.519C>A | p.Gly173Gly | synonymous_variant | Exon 2 of 8 | XP_047305787.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MMRN1 | ENST00000264790.7 | c.519C>A | p.Gly173Gly | synonymous_variant | Exon 1 of 8 | 1 | NM_007351.3 | ENSP00000264790.2 | ||
MMRN1 | ENST00000394980.5 | c.519C>A | p.Gly173Gly | synonymous_variant | Exon 2 of 9 | 5 | ENSP00000378431.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250518Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135382
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461556Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 727072
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at