rs2255317
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000254898.7(MATN2):c.2564C>A(p.Thr855Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,458,288 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T855M) has been classified as Likely benign.
Frequency
Consequence
ENST00000254898.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MATN2 | NM_002380.5 | c.2564C>A | p.Thr855Lys | missense_variant | 16/19 | ENST00000254898.7 | NP_002371.3 | |
MATN2 | NM_030583.4 | c.2564C>A | p.Thr855Lys | missense_variant | 16/19 | NP_085072.2 | ||
MATN2 | NM_001317748.2 | c.2441C>A | p.Thr814Lys | missense_variant | 15/18 | NP_001304677.1 | ||
MATN2 | XM_005250920.3 | c.2150C>A | p.Thr717Lys | missense_variant | 15/18 | XP_005250977.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MATN2 | ENST00000254898.7 | c.2564C>A | p.Thr855Lys | missense_variant | 16/19 | 1 | NM_002380.5 | ENSP00000254898 | P4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458288Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 725086
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at