chr15-83136496-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_023003.5(TM6SF1):c.937A>G(p.Ile313Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I313T) has been classified as Uncertain significance.
Frequency
Consequence
NM_023003.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TM6SF1 | NM_023003.5 | c.937A>G | p.Ile313Val | missense_variant | 10/10 | ENST00000322019.14 | |
HDGFL3 | NM_016073.4 | c.*2774T>C | 3_prime_UTR_variant | 6/6 | ENST00000299633.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TM6SF1 | ENST00000322019.14 | c.937A>G | p.Ile313Val | missense_variant | 10/10 | 1 | NM_023003.5 | P1 | |
HDGFL3 | ENST00000299633.7 | c.*2774T>C | 3_prime_UTR_variant | 6/6 | 1 | NM_016073.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 08, 2024 | The c.937A>G (p.I313V) alteration is located in exon 10 (coding exon 10) of the TM6SF1 gene. This alteration results from a A to G substitution at nucleotide position 937, causing the isoleucine (I) at amino acid position 313 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
Publications
No publications associated with this variant yet.