rs1442138
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_007351.3(MMRN1):āc.172A>Gā(p.Thr58Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0592 in 1,613,694 control chromosomes in the GnomAD database, including 3,373 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_007351.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MMRN1 | NM_007351.3 | c.172A>G | p.Thr58Ala | missense_variant | 1/8 | ENST00000264790.7 | |
MMRN1 | NM_001371403.1 | c.172A>G | p.Thr58Ala | missense_variant | 2/9 | ||
MMRN1 | XM_047449831.1 | c.172A>G | p.Thr58Ala | missense_variant | 2/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MMRN1 | ENST00000264790.7 | c.172A>G | p.Thr58Ala | missense_variant | 1/8 | 1 | NM_007351.3 | P1 | |
MMRN1 | ENST00000394980.5 | c.172A>G | p.Thr58Ala | missense_variant | 2/9 | 5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0794 AC: 12060AN: 151934Hom.: 644 Cov.: 32
GnomAD3 exomes AF: 0.0526 AC: 13173AN: 250484Hom.: 541 AF XY: 0.0511 AC XY: 6913AN XY: 135372
GnomAD4 exome AF: 0.0571 AC: 83410AN: 1461642Hom.: 2727 Cov.: 35 AF XY: 0.0560 AC XY: 40726AN XY: 727128
GnomAD4 genome AF: 0.0794 AC: 12076AN: 152052Hom.: 646 Cov.: 32 AF XY: 0.0762 AC XY: 5665AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at