NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala) AND Lynch syndrome 5

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 15, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000662448.2

Allele description [Variation Report for NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)]

NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)

HGVS:

NC_000002.12:g.47799850C>G
NG_007111.1:g.21704C>G
NM_000179.3:c.1867C>GMANE SELECT
NM_001281492.2:c.1477C>G
NM_001281493.2:c.961C>G
NM_001281494.2:c.961C>G
NP_000170.1:p.Pro623Ala
NP_000170.1:p.Pro623Ala
NP_001268421.1:p.Pro493Ala
NP_001268422.1:p.Pro321Ala
NP_001268423.1:p.Pro321Ala
LRG_219t1:c.1867C>G
LRG_219:g.21704C>G
LRG_219p1:p.Pro623Ala
NC_000002.11:g.48026989C>G
NM_000179.2:c.1867C>G
P52701:p.Pro623Ala
p.P623A

Protein change:

P321A

Links:

UniProtKB: P52701#VAR_029244; dbSNP: rs3136334

NCBI 1000 Genomes Browser:

rs3136334

Molecular consequence:

NM_000179.3:c.1867C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281492.2:c.1477C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281493.2:c.961C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001281494.2:c.961C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lynch syndrome 5 (LYNCH5)
Synonyms:: Colorectal cancer, hereditary nonpolyposis, type 5; Hereditary non-polyposis colorectal cancer, type 5
Identifiers:: MONDO: MONDO:0013710; MedGen: C1833477; Orphanet: 144; OMIM: 614350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000784919	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Feb 15, 2017)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 24393486, 24728327, 22949387, 22703879, 26580448 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, Citation Link,
SCV001481468	Baylor Genetics - CSER-TexasKidsCanSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 15, 2020)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000784919

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Feb 15, 2017)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV001481468

Baylor Genetics - CSER-TexasKidsCanSeq

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 15, 2020)

paternal

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

RNase-mediated protein footprint sequencing reveals protein-binding sites throughout the human transcriptome.

Silverman IM, Li F, Alexander A, Goff L, Trapnell C, Rinn JL, Gregory BD.

Genome Biol. 2014 Jan 7;15(1):R3. doi: 10.1186/gb-2014-15-1-r3.

PubMed [citation]

PMID:: 24393486
PMCID:: PMC4053792

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

See all PubMed Citations (6)

Details of each submission

From Counsyl, SCV000784919.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV001481468.2

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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