MSH5-SAPCD1

Chr 6

MSH5-SAPCD1 readthrough (NMD candidate)

Also known as: MSH5-C6orf26

This locus represents naturally occurring read-through transcription between the neighboring mutS homolog 5 (MSH5) and chromosome 6 open reading frame 26 (C6orf26) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

129
ClinVar variants
8
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryMSH5-SAPCD1
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 96 VUS of 129 total submissions
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

129 submitted variants in ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic3
VUS96
Likely Benign17
Benign7
Conflicting1
5
Pathogenic
3
Likely Pathogenic
96
VUS
17
Likely Benign
7
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
3
1
1
0
5
Likely Pathogenic
0
2
1
0
3
VUS
1
94
1
0
96
Likely Benign
0
13
3
1
17
Benign
0
4
0
3
7
Conflicting
1
Total411464129

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MSH5-SAPCD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

No OMIM entries found.