rs3045983
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PM4BP6_Very_StrongBA1
The NM_002439.5(MSH3):βc.199_207delβ(p.Pro67_Pro69del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.271 in 1,521,560 control chromosomes in the GnomAD database, including 63,065 homozygotes. Variant has been reported in ClinVar as Benign (β β ). Synonymous variant affecting the same amino acid position (i.e. P66P) has been classified as Likely benign.
Frequency
Consequence
NM_002439.5 inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MSH3 | NM_002439.5 | c.199_207del | p.Pro67_Pro69del | inframe_deletion | 1/24 | ENST00000265081.7 | |
DHFR | NM_000791.4 | c.-442_-434del | 5_prime_UTR_variant | 1/6 | ENST00000439211.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MSH3 | ENST00000265081.7 | c.199_207del | p.Pro67_Pro69del | inframe_deletion | 1/24 | 1 | NM_002439.5 | P2 | |
DHFR | ENST00000439211.7 | c.-442_-434del | 5_prime_UTR_variant | 1/6 | 1 | NM_000791.4 | P1 | ||
MSH3 | ENST00000667069.1 | c.199_207del | p.Pro67_Pro69del | inframe_deletion | 1/22 | ||||
MSH3 | ENST00000670357.1 | c.199_207del | p.Pro67_Pro69del | inframe_deletion, NMD_transcript_variant | 1/25 |
Frequencies
GnomAD3 genomes AF: 0.258 AC: 38926AN: 150902Hom.: 5181 Cov.: 0
GnomAD3 exomes AF: 0.309 AC: 39028AN: 126454Hom.: 7452 AF XY: 0.318 AC XY: 22606AN XY: 71060
GnomAD4 exome AF: 0.272 AC: 373255AN: 1370550Hom.: 57880 AF XY: 0.276 AC XY: 187394AN XY: 678858
GnomAD4 genome AF: 0.258 AC: 38939AN: 151010Hom.: 5185 Cov.: 0 AF XY: 0.256 AC XY: 18875AN XY: 73796
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 28, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF - |
Constitutional megaloblastic anemia with severe neurologic disease Benign:1
Benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Nov 22, 2023 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 15, 2021 | This variant is associated with the following publications: (PMID: 25927356) - |
Hereditary cancer-predisposing syndrome Benign:1
Benign, criteria provided, single submitter | curation | Sema4, Sema4 | Apr 28, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at