chr14-24507429-C-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001836.5(CMA1):āc.136G>Cā(p.Gly46Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00408 in 1,614,156 control chromosomes in the GnomAD database, including 21 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001836.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CMA1 | NM_001836.5 | c.136G>C | p.Gly46Arg | missense_variant | 2/5 | ENST00000250378.7 | |
CMA1 | NM_001308083.2 | c.-125+749G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CMA1 | ENST00000250378.7 | c.136G>C | p.Gly46Arg | missense_variant | 2/5 | 1 | NM_001836.5 | P1 | |
CMA1 | ENST00000206446.4 | c.-125+749G>C | intron_variant | 1 | |||||
ENST00000555109.1 | n.144-705C>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.00385 AC: 586AN: 152158Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00459 AC: 1154AN: 251240Hom.: 5 AF XY: 0.00478 AC XY: 649AN XY: 135768
GnomAD4 exome AF: 0.00411 AC: 6006AN: 1461880Hom.: 20 Cov.: 31 AF XY: 0.00424 AC XY: 3080AN XY: 727240
GnomAD4 genome AF: 0.00384 AC: 585AN: 152276Hom.: 1 Cov.: 32 AF XY: 0.00402 AC XY: 299AN XY: 74450
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Mar 28, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at