NM_000179.3(MSH6):c.3628_3629delinsTA (p.Val1210Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 15, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002452336.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3628_3629delinsTA (p.Val1210Ter)]

NM_000179.3(MSH6):c.3628_3629delinsTA (p.Val1210Ter)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.3628_3629delinsTA (p.Val1210Ter)

HGVS:

NC_000002.12:g.47805689_47805690delinsTA
NG_007111.1:g.27543_27544delinsTA
NG_008397.1:g.104986_104987delinsTA
NM_000179.3:c.3628_3629delinsTAMANE SELECT
NM_001281492.2:c.3238_3239delinsTA
NM_001281493.2:c.2722_2723delinsTA
NM_001281494.2:c.2722_2723delinsTA
NM_001406795.1:c.3724_3725delGTinsTA
NM_001406796.1:c.3628_3629delGTinsTA
NM_001406797.1:c.3331_3332delGTinsTA
NM_001406798.1:c.3454_3455delGTinsTA
NM_001406799.1:c.3103_3104delGTinsTA
NM_001406800.1:c.3628_3629delGTinsTA
NM_001406801.1:c.3331_3332delGTinsTA
NM_001406802.1:c.3724_3725delGTinsTA
NM_001406803.1:c.2764_2765delGTinsTA
NM_001406804.1:c.3550_3551delGTinsTA
NM_001406805.1:c.3331_3332delGTinsTA
NM_001406806.1:c.3103_3104delGTinsTA
NM_001406807.1:c.3103_3104delGTinsTA
NM_001406808.1:c.3628_3629delGTinsTA
NM_001406809.1:c.3628_3629delGTinsTA
NM_001406811.1:c.2722_2723delGTinsTA
NM_001406812.1:c.2722_2723delGTinsTA
NM_001406813.1:c.3634_3635delGTinsTA
NM_001406814.1:c.2722_2723delGTinsTA
NM_001406815.1:c.2722_2723delGTinsTA
NM_001406816.1:c.2722_2723delGTinsTA
NM_001406817.1:c.2062_2063delGTinsTA
NM_001406818.1:c.3331_3332delGTinsTA
NM_001406819.1:c.3331_3332delGTinsTA
NM_001406820.1:c.3331_3332delGTinsTA
NM_001406821.1:c.3331_3332delGTinsTA
NM_001406822.1:c.3331_3332delGTinsTA
NM_001406823.1:c.2722_2723delGTinsTA
NM_001406824.1:c.3331_3332delGTinsTA
NM_001406825.1:c.3331_3332delGTinsTA
NM_001406826.1:c.3460_3461delGTinsTA
NM_001406827.1:c.3331_3332delGTinsTA
NM_001406828.1:c.3331_3332delGTinsTA
NM_001406829.1:c.2722_2723delGTinsTA
NM_001406830.1:c.3331_3332delGTinsTA
NM_001406831.1:c.409_410delGTinsTA
NM_001406832.1:c.475_476delGTinsTA
NM_001407362.1:c.1573_1574delGTinsTA
NP_000170.1:p.Val1210Ter
NP_000170.1:p.Val1210Ter
NP_001268421.1:p.Val1080Ter
NP_001268422.1:p.Val908Ter
NP_001268423.1:p.Val908Ter
NP_001393724.1:p.Val1242Ter
NP_001393725.1:p.Val1210Ter
NP_001393726.1:p.Val1111Ter
NP_001393727.1:p.Val1152Ter
NP_001393728.1:p.Val1035Ter
NP_001393729.1:p.Val1210Ter
NP_001393730.1:p.Val1111Ter
NP_001393731.1:p.Val1242Ter
NP_001393732.1:p.Val922Ter
NP_001393733.1:p.Val1184Ter
NP_001393734.1:p.Val1111Ter
NP_001393735.1:p.Val1035Ter
NP_001393736.1:p.Val1035Ter
NP_001393737.1:p.Val1210Ter
NP_001393738.1:p.Val1210Ter
NP_001393740.1:p.Val908Ter
NP_001393741.1:p.Val908Ter
NP_001393742.1:p.Val1212Ter
NP_001393743.1:p.Val908Ter
NP_001393744.1:p.Val908Ter
NP_001393745.1:p.Val908Ter
NP_001393746.1:p.Val688Ter
NP_001393747.1:p.Val1111Ter
NP_001393748.1:p.Val1111Ter
NP_001393749.1:p.Val1111Ter
NP_001393750.1:p.Val1111Ter
NP_001393751.1:p.Val1111Ter
NP_001393752.1:p.Val908Ter
NP_001393753.1:p.Val1111Ter
NP_001393754.1:p.Val1111Ter
NP_001393755.1:p.Val1154Ter
NP_001393756.1:p.Val1111Ter
NP_001393757.1:p.Val1111Ter
NP_001393758.1:p.Val908Ter
NP_001393759.1:p.Val1111Ter
NP_001393760.1:p.Val137Ter
NP_001393761.1:p.Val159Ter
NP_001394291.1:p.Val525Ter
LRG_219t1:c.3628_3629delGTinsTA
LRG_219:g.27543_27544delinsTA
LRG_219p1:p.Val1210Ter
NC_000002.11:g.48032828_48032829delinsTA
NM_000179.2:c.3628_3629delGTinsTA
NR_176256.1:n.2558_2559delGTinsTA
NR_176257.1:n.3889_3890delGTinsTA
NR_176258.1:n.3818_3819delGTinsTA
NR_176259.1:n.3717_3718delGTinsTA
NR_176260.1:n.1662_1663delGTinsTA
NR_176261.1:n.3599_3600delGTinsTA

Protein change:

V1035*

Molecular consequence:

NM_000179.3:c.3628_3629delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001281492.2:c.3238_3239delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001281493.2:c.2722_2723delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001281494.2:c.2722_2723delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406795.1:c.3724_3725delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406796.1:c.3628_3629delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406797.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406798.1:c.3454_3455delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406799.1:c.3103_3104delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406800.1:c.3628_3629delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406801.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406802.1:c.3724_3725delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406803.1:c.2764_2765delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406804.1:c.3550_3551delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406805.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406806.1:c.3103_3104delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406807.1:c.3103_3104delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406808.1:c.3628_3629delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406809.1:c.3628_3629delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406811.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406812.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406813.1:c.3634_3635delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406814.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406815.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406816.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406817.1:c.2062_2063delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406818.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406819.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406820.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406821.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406822.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406823.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406824.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406825.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406826.1:c.3460_3461delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406827.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406828.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406829.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406830.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406831.1:c.409_410delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001406832.1:c.475_476delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407362.1:c.1573_1574delGTinsTA - 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

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Homo sapiens serine and arginine rich splicing factor 5 (SRSF5), transcript vari...
Homo sapiens serine and arginine rich splicing factor 5 (SRSF5), transcript variant 2, mRNA
gi|1676325286|ref|NM_006925.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002616408	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jan 15, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002616408

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jan 15, 2021)

germline

clinical testing

Citation Link

Help

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, SCV002616408.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.3628_3629delGTinsTA pathogenic mutation (also known as p.V1210*), located in coding exon 7 of the MSH6 gene, results from an in-frame deletion of GT and insertion of TA at nucleotide positions 3628 to 3629. This results in the substitution of the valine residue for a stop codon at codon 1210. 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: May 1, 2024

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