rs2243897
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001394757.1(EBLN1):āc.704T>Cā(p.Met235Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.264 in 1,589,788 control chromosomes in the GnomAD database, including 58,483 homozygotes. In-silico tool predicts a benign outcome for this variant. 9/14 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001394757.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EBLN1 | NM_001394757.1 | c.704T>C | p.Met235Thr | missense_variant | 3/3 | ENST00000422359.3 | NP_001381686.1 | |
EBLN1 | NM_001199938.2 | c.704T>C | p.Met235Thr | missense_variant | 1/1 | NP_001186867.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EBLN1 | ENST00000422359.3 | c.704T>C | p.Met235Thr | missense_variant | 3/3 | 6 | NM_001394757.1 | ENSP00000473842.1 |
Frequencies
GnomAD3 genomes AF: 0.322 AC: 48913AN: 152014Hom.: 8815 Cov.: 32
GnomAD3 exomes AF: 0.258 AC: 54099AN: 209552Hom.: 7458 AF XY: 0.248 AC XY: 28748AN XY: 115772
GnomAD4 exome AF: 0.258 AC: 370460AN: 1437656Hom.: 49641 Cov.: 33 AF XY: 0.254 AC XY: 181652AN XY: 714528
GnomAD4 genome AF: 0.322 AC: 48989AN: 152132Hom.: 8842 Cov.: 32 AF XY: 0.318 AC XY: 23625AN XY: 74382
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at