10-73148331-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007265.3(ECD):c.986C>T(p.Ala329Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000158 in 1,613,792 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 (★).
Frequency
Consequence
NM_007265.3 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 |
---|---|---|---|---|---|---|---|
ECD | NM_007265.3 | c.986C>T | p.Ala329Val | missense_variant | 8/14 | ENST00000372979.9 | |
ECD | NM_001135752.1 | c.986C>T | p.Ala329Val | missense_variant | 8/15 | ||
ECD | NM_001135753.1 | c.857C>T | p.Ala286Val | missense_variant | 7/13 | ||
ECD | NR_024203.1 | n.818C>T | non_coding_transcript_exon_variant | 6/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ECD | ENST00000372979.9 | c.986C>T | p.Ala329Val | missense_variant | 8/14 | 1 | NM_007265.3 | P1 | |
ECD | ENST00000430082.6 | c.986C>T | p.Ala329Val | missense_variant | 8/15 | 1 | |||
ECD | ENST00000454759.6 | c.857C>T | p.Ala286Val | missense_variant | 7/13 | 1 | |||
ECD | ENST00000484976.6 | c.*79C>T | 3_prime_UTR_variant, NMD_transcript_variant | 6/12 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000637 AC: 16AN: 251266Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135800
GnomAD4 exome AF: 0.000165 AC: 241AN: 1461630Hom.: 0 Cov.: 30 AF XY: 0.000158 AC XY: 115AN XY: 727126
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2021 | The c.986C>T (p.A329V) alteration is located in exon 8 (coding exon 7) of the ECD gene. This alteration results from a C to T substitution at nucleotide position 986, causing the alanine (A) at amino acid position 329 to be replaced by a valine (V). 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