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NM_152704.4(AMER2):c.472G>C (p.Ala158Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 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:
RCV004406549.1

Allele description [Variation Report for NM_152704.4(AMER2):c.472G>C (p.Ala158Pro)]

NM_152704.4(AMER2):c.472G>C (p.Ala158Pro)

Gene:
AMER2:APC membrane recruitment protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.13
Genomic location:
Preferred name:
NM_152704.4(AMER2):c.472G>C (p.Ala158Pro)
HGVS:
  • NC_000013.11:g.25171148C>G
  • NM_152704.4:c.472G>CMANE SELECT
  • NM_199138.2:c.472G>C
  • NP_689917.2:p.Ala158Pro
  • NP_954589.1:p.Ala158Pro
  • NC_000013.10:g.25745286C>G
  • NM_152704.2:c.472G>C
Protein change:
A158P
Molecular consequence:
  • NM_152704.4:c.472G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199138.2:c.472G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004891396Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 1, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004891396.1

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

Description

The c.472G>C (p.A158P) alteration is located in exon 1 (coding exon 1) of the AMER2 gene. This alteration results from a G to C substitution at nucleotide position 472, causing the alanine (A) at amino acid position 158 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024