rs2073043
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_005491.5(MAMLD1):āc.1985A>Gā(p.Asn662Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.134 in 1,202,243 control chromosomes in the GnomAD database, including 7,994 homozygotes. There are 51,547 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_005491.5 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 |
---|---|---|---|---|---|---|---|
MAMLD1 | NM_005491.5 | c.1985A>G | p.Asn662Ser | missense_variant | 5/8 | ENST00000370401.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAMLD1 | ENST00000370401.7 | c.1985A>G | p.Asn662Ser | missense_variant | 5/8 | 5 | NM_005491.5 | A2 |
Frequencies
GnomAD3 genomes AF: 0.104 AC: 11515AN: 110226Hom.: 581 Cov.: 23 AF XY: 0.0988 AC XY: 3231AN XY: 32696
GnomAD3 exomes AF: 0.110 AC: 20147AN: 183205Hom.: 799 AF XY: 0.112 AC XY: 7549AN XY: 67671
GnomAD4 exome AF: 0.136 AC: 148987AN: 1091963Hom.: 7411 Cov.: 30 AF XY: 0.135 AC XY: 48314AN XY: 357593
GnomAD4 genome AF: 0.104 AC: 11515AN: 110280Hom.: 583 Cov.: 23 AF XY: 0.0987 AC XY: 3233AN XY: 32760
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at