chr10-73148376-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_007265.3(ECD):āc.941A>Cā(p.Lys314Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,600 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_007265.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ECD | NM_007265.3 | c.941A>C | p.Lys314Thr | missense_variant | 8/14 | ENST00000372979.9 | |
ECD | NM_001135752.1 | c.941A>C | p.Lys314Thr | missense_variant | 8/15 | ||
ECD | NM_001135753.1 | c.812A>C | p.Lys271Thr | missense_variant | 7/13 | ||
ECD | NR_024203.1 | n.773A>C | non_coding_transcript_exon_variant | 6/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ECD | ENST00000372979.9 | c.941A>C | p.Lys314Thr | missense_variant | 8/14 | 1 | NM_007265.3 | P1 | |
ECD | ENST00000430082.6 | c.941A>C | p.Lys314Thr | missense_variant | 8/15 | 1 | |||
ECD | ENST00000454759.6 | c.812A>C | p.Lys271Thr | missense_variant | 7/13 | 1 | |||
ECD | ENST00000484976.6 | c.*34A>C | 3_prime_UTR_variant, NMD_transcript_variant | 6/12 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461600Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727110
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 12, 2021 | The c.941A>C (p.K314T) alteration is located in exon 8 (coding exon 7) of the ECD gene. This alteration results from a A to C substitution at nucleotide position 941, causing the lysine (K) at amino acid position 314 to be replaced by a threonine (T). 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
Publications
No publications associated with this variant yet.