10-80603708-A-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001388272.1(SH2D4B):c.773A>T(p.Glu258Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000031 in 1,613,456 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001388272.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SH2D4B | NM_001388272.1 | c.773A>T | p.Glu258Val | missense_variant | 5/8 | ENST00000646907.2 | |
SH2D4B | NM_207372.2 | c.773A>T | p.Glu258Val | missense_variant | 5/7 | ||
SH2D4B | NM_001145719.1 | c.626A>T | p.Glu209Val | missense_variant | 5/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SH2D4B | ENST00000646907.2 | c.773A>T | p.Glu258Val | missense_variant | 5/8 | NM_001388272.1 | P1 | ||
SH2D4B | ENST00000339284.6 | c.773A>T | p.Glu258Val | missense_variant | 5/7 | 2 | |||
SH2D4B | ENST00000313455.5 | c.626A>T | p.Glu209Val | missense_variant | 5/7 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000526 AC: 8AN: 152120Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000402 AC: 10AN: 248730Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134866
GnomAD4 exome AF: 0.0000287 AC: 42AN: 1461218Hom.: 0 Cov.: 33 AF XY: 0.0000261 AC XY: 19AN XY: 726910
GnomAD4 genome ? AF: 0.0000525 AC: 8AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74422
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 01, 2023 | The c.773A>T (p.E258V) alteration is located in exon 5 (coding exon 5) of the SH2D4B gene. This alteration results from a A to T substitution at nucleotide position 773, causing the glutamic acid (E) at amino acid position 258 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