NM_000179.3(MSH6):c.981dup (p.Ser328Ter) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 16, 2022
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV003170944.2
Allele description [Variation Report for NM_000179.3(MSH6):c.981dup (p.Ser328Ter)]
NM_000179.3(MSH6):c.981dup (p.Ser328Ter)
- Gene:
- MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
- Variant type:
- Duplication
- Cytogenetic location:
- 2p16.3
- Genomic location:
- Preferred name:
- NM_000179.3(MSH6):c.981dup (p.Ser328Ter)
- HGVS:
- NC_000002.12:g.47798964dup
- NG_007111.1:g.20818dup
- NM_000179.3:c.981dupMANE SELECT
- NM_001281492.2:c.591dup
- NM_001281493.2:c.75dup
- NM_001281494.2:c.75dup
- NM_001406795.1:c.1077dup
- NM_001406796.1:c.981dup
- NM_001406797.1:c.684dup
- NM_001406798.1:c.981dup
- NM_001406799.1:c.456dup
- NM_001406800.1:c.981dup
- NM_001406801.1:c.684dup
- NM_001406802.1:c.1077dup
- NM_001406803.1:c.981dup
- NM_001406804.1:c.903dup
- NM_001406805.1:c.684dup
- NM_001406806.1:c.456dup
- NM_001406807.1:c.456dup
- NM_001406808.1:c.981dup
- NM_001406809.1:c.981dup
- NM_001406811.1:c.75dup
- NM_001406812.1:c.75dup
- NM_001406813.1:c.987dup
- NM_001406814.1:c.75dup
- NM_001406815.1:c.75dup
- NM_001406816.1:c.75dup
- NM_001406817.1:c.981dup
- NM_001406818.1:c.684dup
- NM_001406819.1:c.684dup
- NM_001406820.1:c.684dup
- NM_001406821.1:c.684dup
- NM_001406822.1:c.684dup
- NM_001406823.1:c.75dup
- NM_001406824.1:c.684dup
- NM_001406825.1:c.684dup
- NM_001406826.1:c.813dup
- NM_001406827.1:c.684dup
- NM_001406828.1:c.684dup
- NM_001406829.1:c.75dup
- NM_001406830.1:c.684dup
- NP_000170.1:p.Ser328Ter
- NP_000170.1:p.Ser328Terfs
- NP_001268421.1:p.Ser198Ter
- NP_001268422.1:p.Ser26Ter
- NP_001268423.1:p.Ser26Ter
- NP_001393724.1:p.Ser360Terfs
- NP_001393725.1:p.Ser328Terfs
- NP_001393726.1:p.Ser229Terfs
- NP_001393727.1:p.Ser328Terfs
- NP_001393728.1:p.Ser153Terfs
- NP_001393729.1:p.Ser328Terfs
- NP_001393730.1:p.Ser229Terfs
- NP_001393731.1:p.Ser360Terfs
- NP_001393732.1:p.Ser328Terfs
- NP_001393733.1:p.Ser302Terfs
- NP_001393734.1:p.Ser229Terfs
- NP_001393735.1:p.Ser153Terfs
- NP_001393736.1:p.Ser153Terfs
- NP_001393737.1:p.Ser328Terfs
- NP_001393738.1:p.Ser328Terfs
- NP_001393740.1:p.Ser26Terfs
- NP_001393741.1:p.Ser26Terfs
- NP_001393742.1:p.Ser330Terfs
- NP_001393743.1:p.Ser26Terfs
- NP_001393744.1:p.Ser26Terfs
- NP_001393745.1:p.Ser26Terfs
- NP_001393746.1:p.Ser328Terfs
- NP_001393747.1:p.Ser229Terfs
- NP_001393748.1:p.Ser229Terfs
- NP_001393749.1:p.Ser229Terfs
- NP_001393750.1:p.Ser229Terfs
- NP_001393751.1:p.Ser229Terfs
- NP_001393752.1:p.Ser26Terfs
- NP_001393753.1:p.Ser229Terfs
- NP_001393754.1:p.Ser229Terfs
- NP_001393755.1:p.Ser272Terfs
- NP_001393756.1:p.Ser229Terfs
- NP_001393757.1:p.Ser229Terfs
- NP_001393758.1:p.Ser26Terfs
- NP_001393759.1:p.Ser229Terfs
- LRG_219t1:c.981dup
- LRG_219:g.20818dup
- LRG_219p1:p.Ser328Terfs
- NC_000002.11:g.48026102_48026103insT
- NC_000002.11:g.48026103dup
- NM_000179.2:c.981dup
- NM_000179.2:c.981dupT
- NR_176257.1:n.1070dup
- NR_176258.1:n.1070dup
- NR_176259.1:n.1070dup
- NR_176261.1:n.1070dup
This HGVS expression did not pass validation- Protein change:
- S198*
- Molecular consequence:
- NM_001406795.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406796.1:c.981dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406797.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406798.1:c.981dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406799.1:c.456dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406800.1:c.981dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406801.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406802.1:c.1077dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406803.1:c.981dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406804.1:c.903dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406805.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406806.1:c.456dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406807.1:c.456dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406808.1:c.981dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406809.1:c.981dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406811.1:c.75dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406812.1:c.75dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406813.1:c.987dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406814.1:c.75dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406815.1:c.75dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406816.1:c.75dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406817.1:c.981dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406818.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406819.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406820.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406821.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406822.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406823.1:c.75dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406824.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406825.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406826.1:c.813dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406827.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406828.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406829.1:c.75dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001406830.1:c.684dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_000179.3:c.981dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001281492.2:c.591dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001281493.2:c.75dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001281494.2:c.75dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406795.1:c.1077dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406796.1:c.981dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406797.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406798.1:c.981dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406799.1:c.456dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406800.1:c.981dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406801.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406802.1:c.1077dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406803.1:c.981dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406804.1:c.903dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406805.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406806.1:c.456dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406807.1:c.456dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406808.1:c.981dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406809.1:c.981dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406811.1:c.75dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406812.1:c.75dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406813.1:c.987dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406814.1:c.75dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406815.1:c.75dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406816.1:c.75dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406817.1:c.981dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406818.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406819.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406820.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406821.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406822.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406823.1:c.75dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406824.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406825.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406826.1:c.813dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406827.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406828.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406829.1:c.75dup - nonsense - [Sequence Ontology: SO:0001587]
- NM_001406830.1:c.684dup - nonsense - [Sequence Ontology: SO:0001587]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV003865238 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Pathogenic (Dec 16, 2022) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV003865238.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.981dupT pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of T at nucleotide position 981, causing a translational frameshift with a predicted alternate stop codon (p.S328*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Sep 29, 2024