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NM_144670.6(A2ML1):c.171G>T (p.Glu57Asp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 25, 2015
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:
RCV000412801.1

Allele description [Variation Report for NM_144670.6(A2ML1):c.171G>T (p.Glu57Asp)]

NM_144670.6(A2ML1):c.171G>T (p.Glu57Asp)

Genes:
A2ML1-AS1:A2ML1 antisense RNA 1 [Gene - HGNC]
A2ML1:alpha-2-macroglobulin like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_144670.6(A2ML1):c.171G>T (p.Glu57Asp)
HGVS:
  • NC_000012.12:g.8823290G>T
  • NG_042857.1:g.5819G>T
  • NM_144670.6:c.171G>TMANE SELECT
  • NP_653271.3:p.Glu57Asp
  • NC_000012.11:g.8975886G>T
  • NM_144670.4:c.171G>T
Protein change:
E57D
Links:
dbSNP: rs939451589
NCBI 1000 Genomes Browser:
rs939451589
Molecular consequence:
  • NM_144670.6:c.171G>T - 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
SCV000491016GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 25, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491016.1

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

Description

The E57D variant in the A2ML1 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The E57D variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E57D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E57D as a variant of unknown significance

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

Last Updated: Oct 14, 2023