chr10-22209541-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001394757.1(EBLN1):c.443C>T(p.Ala148Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000497 in 1,407,074 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001394757.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EBLN1 | NM_001394757.1 | c.443C>T | p.Ala148Val | missense_variant | 3/3 | ENST00000422359.3 | NP_001381686.1 | |
EBLN1 | NM_001199938.2 | c.443C>T | p.Ala148Val | missense_variant | 1/1 | NP_001186867.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EBLN1 | ENST00000422359.3 | c.443C>T | p.Ala148Val | missense_variant | 3/3 | NM_001394757.1 | ENSP00000473842 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 5AN: 138110Hom.: 0 Cov.: 33 FAILED QC
GnomAD3 exomes AF: 0.000193 AC: 30AN: 155102Hom.: 0 AF XY: 0.000188 AC XY: 16AN XY: 85040
GnomAD4 exome AF: 0.0000497 AC: 70AN: 1407074Hom.: 1 Cov.: 33 AF XY: 0.0000574 AC XY: 40AN XY: 696618
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000362 AC: 5AN: 138200Hom.: 0 Cov.: 33 AF XY: 0.0000740 AC XY: 5AN XY: 67600
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 02, 2023 | The c.443C>T (p.A148V) alteration is located in exon 1 (coding exon 1) of the EBLN1 gene. This alteration results from a C to T substitution at nucleotide position 443, causing the alanine (A) at amino acid position 148 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