rs763466973
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001836.5(CMA1):c.256G>T(p.Asp86Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000805 in 1,614,154 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001836.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CMA1 | ENST00000250378.7 | c.256G>T | p.Asp86Tyr | missense_variant | Exon 3 of 5 | 1 | NM_001836.5 | ENSP00000250378.3 | ||
CMA1 | ENST00000206446.4 | c.-78G>T | 5_prime_UTR_variant | Exon 2 of 4 | 1 | ENSP00000206446.4 | ||||
ENSG00000258744 | ENST00000555109.1 | n.144-1576C>A | intron_variant | Intron 1 of 1 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251184Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135746
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461860Hom.: 0 Cov.: 33 AF XY: 0.00000413 AC XY: 3AN XY: 727230
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74468
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.256G>T (p.D86Y) alteration is located in exon 3 (coding exon 3) of the CMA1 gene. This alteration results from a G to T substitution at nucleotide position 256, causing the aspartic acid (D) at amino acid position 86 to be replaced by a tyrosine (Y). 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