NM_000534.5(PMS1):c.2665C>G (p.Pro889Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 11, 2022
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:: RCV004139399.1

Allele description [Variation Report for NM_000534.5(PMS1):c.2665C>G (p.Pro889Ala)]

NM_000534.5(PMS1):c.2665C>G (p.Pro889Ala)

Gene:

PMS1:PMS1 homolog 1, mismatch repair system component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

Preferred name:

NM_000534.5(PMS1):c.2665C>G (p.Pro889Ala)

HGVS:

NC_000002.12:g.189877302C>G
NG_008648.1:g.98218C>G
NM_000534.5:c.2665C>GMANE SELECT
NM_001128143.2:c.2548C>G
NM_001128144.2:c.2179C>G
NM_001289408.2:c.2137C>G
NM_001289409.2:c.2137C>G
NM_001321044.2:c.2062C>G
NM_001321045.2:c.2665C>G
NM_001321046.2:c.2482C>G
NM_001321047.2:c.2665C>G
NM_001321048.2:c.2665C>G
NP_000525.1:p.Pro889Ala
NP_000525.1:p.Pro889Ala
NP_001121615.1:p.Pro850Ala
NP_001121616.1:p.Pro727Ala
NP_001276337.1:p.Pro713Ala
NP_001276338.1:p.Pro713Ala
NP_001307973.1:p.Pro688Ala
NP_001307974.1:p.Pro889Ala
NP_001307975.1:p.Pro828Ala
NP_001307976.1:p.Pro889Ala
NP_001307977.1:p.Pro889Ala
LRG_221t1:c.2665C>G
LRG_221:g.98218C>G
LRG_221p1:p.Pro889Ala
NC_000002.11:g.190742028C>G
NM_000534.4:c.2665C>G
NR_110332.2:n.2555C>G

Protein change:

P688A

Molecular consequence:

NM_000534.5:c.2665C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128143.2:c.2548C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128144.2:c.2179C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289408.2:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289409.2:c.2137C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321044.2:c.2062C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321045.2:c.2665C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321046.2:c.2482C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321047.2:c.2665C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321048.2:c.2665C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_110332.2:n.2555C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003617262	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003617262

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 11, 2022)

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, SCV003617262.2

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

Description

The c.2665C>G (p.P889A) alteration is located in exon 13 (coding exon 12) of the PMS1 gene. This alteration results from a C to G substitution at nucleotide position 2665, causing the proline (P) at amino acid position 889 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 24, 2024

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