3-49887356-C-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_002447.4(MST1R):c.4154G>T(p.Gly1385Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00157 in 1,614,236 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_002447.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MST1R | NM_002447.4 | c.4154G>T | p.Gly1385Val | missense_variant | 20/20 | ENST00000296474.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MST1R | ENST00000296474.8 | c.4154G>T | p.Gly1385Val | missense_variant | 20/20 | 1 | NM_002447.4 | P2 | |
MST1R | ENST00000621387.4 | c.3836G>T | p.Gly1279Val | missense_variant | 18/18 | 1 | |||
MST1R | ENST00000344206.8 | c.4007G>T | p.Gly1336Val | missense_variant | 19/19 | 5 | A2 | ||
MST1R | ENST00000411578.6 | c.*976G>T | 3_prime_UTR_variant, NMD_transcript_variant | 19/19 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000985 AC: 150AN: 152238Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000640 AC: 161AN: 251462Hom.: 0 AF XY: 0.000640 AC XY: 87AN XY: 135906
GnomAD4 exome AF: 0.00163 AC: 2382AN: 1461880Hom.: 2 Cov.: 30 AF XY: 0.00149 AC XY: 1082AN XY: 727238
GnomAD4 genome ? AF: 0.000985 AC: 150AN: 152356Hom.: 1 Cov.: 33 AF XY: 0.000926 AC XY: 69AN XY: 74510
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 14, 2021 | The c.4154G>T (p.G1385V) alteration is located in exon 20 (coding exon 20) of the MST1R gene. This alteration results from a G to T substitution at nucleotide position 4154, causing the glycine (G) at amino acid position 1385 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
MST1R-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Nov 11, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at