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NM_000038.6(APC):c.7536T>G (p.Ser2512Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 24, 2023
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:
RCV002390703.10

Allele description [Variation Report for NM_000038.6(APC):c.7536T>G (p.Ser2512Arg)]

NM_000038.6(APC):c.7536T>G (p.Ser2512Arg)

Gene:
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.6(APC):c.7536T>G (p.Ser2512Arg)
HGVS:
  • NC_000005.10:g.112843130T>G
  • NG_008481.4:g.155610T>G
  • NM_000038.6:c.7536T>GMANE SELECT
  • NM_001127510.3:c.7536T>G
  • NM_001127511.3:c.7482T>G
  • NM_001354895.2:c.7536T>G
  • NM_001354896.2:c.7590T>G
  • NM_001354897.2:c.7566T>G
  • NM_001354898.2:c.7461T>G
  • NM_001354899.2:c.7452T>G
  • NM_001354900.2:c.7413T>G
  • NM_001354901.2:c.7359T>G
  • NM_001354902.2:c.7263T>G
  • NM_001354903.2:c.7233T>G
  • NM_001354904.2:c.7158T>G
  • NM_001354905.2:c.7056T>G
  • NM_001354906.2:c.6687T>G
  • NP_000029.2:p.Ser2512Arg
  • NP_001120982.1:p.Ser2512Arg
  • NP_001120983.2:p.Ser2494Arg
  • NP_001341824.1:p.Ser2512Arg
  • NP_001341825.1:p.Ser2530Arg
  • NP_001341826.1:p.Ser2522Arg
  • NP_001341827.1:p.Ser2487Arg
  • NP_001341828.1:p.Ser2484Arg
  • NP_001341829.1:p.Ser2471Arg
  • NP_001341830.1:p.Ser2453Arg
  • NP_001341831.1:p.Ser2421Arg
  • NP_001341832.1:p.Ser2411Arg
  • NP_001341833.1:p.Ser2386Arg
  • NP_001341834.1:p.Ser2352Arg
  • NP_001341835.1:p.Ser2229Arg
  • LRG_130:g.155610T>G
  • NC_000005.9:g.112178827T>G
  • NM_000038.5:c.7536T>G
Protein change:
S2229R
Links:
dbSNP: rs587780604
NCBI 1000 Genomes Browser:
rs587780604
Molecular consequence:
  • NM_000038.6:c.7536T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127510.3:c.7536T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127511.3:c.7482T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354895.2:c.7536T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354896.2:c.7590T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.7566T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354898.2:c.7461T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354899.2:c.7452T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354900.2:c.7413T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354901.2:c.7359T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.7263T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354903.2:c.7233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354904.2:c.7158T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354905.2:c.7056T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354906.2:c.6687T>G - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002670773Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 24, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002670773.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.S2512R variant (also known as c.7536T>G), located in coding exon 15 of the APC gene, results from a T to G substitution at nucleotide position 7536. The serine at codon 2512 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024