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NM_000014.6(A2M):c.4364C>T (p.Thr1455Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 5, 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:
RCV004069537.1

Allele description [Variation Report for NM_000014.6(A2M):c.4364C>T (p.Thr1455Met)]

NM_000014.6(A2M):c.4364C>T (p.Thr1455Met)

Genes:
A2M:alpha-2-macroglobulin [Gene - OMIM - HGNC]
KLRG1:killer cell lectin like receptor G1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000014.6(A2M):c.4364C>T (p.Thr1455Met)
HGVS:
  • NC_000012.12:g.9068742G>A
  • NG_011717.2:g.52221C>T
  • NM_000014.6:c.4364C>TMANE SELECT
  • NM_001347423.2:c.4364C>T
  • NM_001347424.2:c.4064C>T
  • NM_001347425.2:c.3914C>T
  • NP_000005.3:p.Thr1455Met
  • NP_001334352.2:p.Thr1455Met
  • NP_001334353.2:p.Thr1355Met
  • NP_001334354.2:p.Thr1305Met
  • LRG_591t1:c.4364C>T
  • LRG_591:g.52221C>T
  • LRG_591p1:p.Thr1455Met
  • NC_000012.11:g.9221338G>A
  • NM_000014.4:c.4364C>T
Protein change:
T1305M
Molecular consequence:
  • NM_000014.6:c.4364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347423.2:c.4364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347424.2:c.4064C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347425.2:c.3914C>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
SCV003532250Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 5, 2022) 		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, SCV003532250.2

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

Description

The c.4364C>T (p.T1455M) alteration is located in exon 34 (coding exon 34) of the A2M gene. This alteration results from a C to T substitution at nucleotide position 4364, causing the threonine (T) at amino acid position 1455 to be replaced by a methionine (M). 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: Oct 26, 2024