chr6-139135524-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016217.3(HECA):āc.128C>Gā(p.Ala43Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000016 in 999,254 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_016217.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HECA | NM_016217.3 | c.128C>G | p.Ala43Gly | missense_variant | 1/4 | ENST00000367658.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HECA | ENST00000367658.3 | c.128C>G | p.Ala43Gly | missense_variant | 1/4 | 1 | NM_016217.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000276 AC: 4AN: 144704Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.0000140 AC: 12AN: 854550Hom.: 0 Cov.: 29 AF XY: 0.0000126 AC XY: 5AN XY: 396648
GnomAD4 genome AF: 0.0000276 AC: 4AN: 144704Hom.: 0 Cov.: 30 AF XY: 0.0000285 AC XY: 2AN XY: 70292
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 16, 2023 | The c.128C>G (p.A43G) alteration is located in exon 1 (coding exon 1) of the HECA gene. This alteration results from a C to G substitution at nucleotide position 128, causing the alanine (A) at amino acid position 43 to be replaced by a glycine (G). 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