NM_001388272.1:c.247A>T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001388272.1(SH2D4B):c.247A>T(p.Met83Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,614,050 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. M83V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001388272.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SH2D4B | NM_001388272.1 | c.247A>T | p.Met83Leu | missense_variant | Exon 2 of 8 | ENST00000646907.2 | NP_001375201.1 | |
SH2D4B | NM_207372.2 | c.247A>T | p.Met83Leu | missense_variant | Exon 2 of 7 | NP_997255.2 | ||
SH2D4B | NM_001145719.1 | c.100A>T | p.Met34Leu | missense_variant | Exon 2 of 7 | NP_001139191.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SH2D4B | ENST00000646907.2 | c.247A>T | p.Met83Leu | missense_variant | Exon 2 of 8 | NM_001388272.1 | ENSP00000494732.1 | |||
SH2D4B | ENST00000339284.6 | c.247A>T | p.Met83Leu | missense_variant | Exon 2 of 7 | 2 | ENSP00000345295.2 | |||
SH2D4B | ENST00000313455.5 | c.100A>T | p.Met34Leu | missense_variant | Exon 2 of 7 | 2 | ENSP00000314242.4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251480Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135914
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727236
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at