NM_000014.6(A2M):c.214A>C (p.Ser72Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 7, 2024
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:: RCV004436288.1

Allele description [Variation Report for NM_000014.6(A2M):c.214A>C (p.Ser72Arg)]

NM_000014.6(A2M):c.214A>C (p.Ser72Arg)

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.214A>C (p.Ser72Arg)

HGVS:

NC_000012.12:g.9113416T>G
NG_011717.2:g.7547A>C
NM_000014.6:c.214A>CMANE SELECT
NM_001347423.2:c.214A>C
NM_001347424.2:c.-240A>C
NM_001347425.2:c.-77A>C
NP_000005.3:p.Ser72Arg
NP_001334352.2:p.Ser72Arg
LRG_591t1:c.214A>C
LRG_591:g.7547A>C
LRG_591p1:p.Ser72Arg
NC_000012.11:g.9266012T>G
NM_000014.4:c.214A>C

Protein change:

S72R

Molecular consequence:

NM_001347424.2:c.-240A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001347425.2:c.-77A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000014.6:c.214A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001347423.2:c.214A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004925510	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 7, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004925510

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 7, 2024)

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, SCV004925510.1

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

Description

The c.214A>C (p.S72R) alteration is located in exon 2 (coding exon 2) of the A2M gene. This alteration results from a A to C substitution at nucleotide position 214, causing the serine (S) at amino acid position 72 to be replaced by an arginine (R). 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: May 7, 2024

ClinVar

Relating variation to medicine