U.S. flag

An official website of the United States government

NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) AND PI, M1A

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 15, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000019554.29

Allele description

NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)

Gene:
SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)
Other names:
PI, M1A
HGVS:
  • NC_000014.9:g.94381078A>G
  • NG_008290.1:g.14615T>C
  • NM_000295.5:c.710T>CMANE SELECT
  • NM_001002235.3:c.710T>C
  • NM_001002236.3:c.710T>C
  • NM_001127700.2:c.710T>C
  • NM_001127701.2:c.710T>C
  • NM_001127702.2:c.710T>C
  • NM_001127703.2:c.710T>C
  • NM_001127704.2:c.710T>C
  • NM_001127705.2:c.710T>C
  • NM_001127706.2:c.710T>C
  • NM_001127707.2:c.710T>C
  • NP_000286.3:p.Val237Ala
  • NP_001002235.1:p.Val237Ala
  • NP_001002236.1:p.Val237Ala
  • NP_001121172.1:p.Val237Ala
  • NP_001121173.1:p.Val237Ala
  • NP_001121173.1:p.Val237Ala
  • NP_001121174.1:p.Val237Ala
  • NP_001121175.1:p.Val237Ala
  • NP_001121176.1:p.Val237Ala
  • NP_001121177.1:p.Val237Ala
  • NP_001121178.1:p.Val237Ala
  • NP_001121179.1:p.Val237Ala
  • LRG_575t1:c.710T>C
  • LRG_575:g.14615T>C
  • LRG_575p1:p.Val237Ala
  • NC_000014.8:g.94847415A>G
  • NM_000295.4:c.710T>C
  • NM_001127701.1:c.710T>C
  • P01009:p.Val237Ala
Protein change:
V237A
Links:
UniProtKB: P01009#VAR_006997; OMIM: 107400.0001; dbSNP: rs6647
NCBI 1000 Genomes Browser:
rs6647
Molecular consequence:
  • NM_000295.5:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.710T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PI, M1A
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039851OMIM
no assertion criteria provided
Benign
(Jul 15, 2016) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The alpha 1-antitrypsin gene and its deficiency states.

Crystal RG.

Trends Genet. 1989 Dec;5(12):411-7. Review.

PubMed [citation]
PMID:
2696185

Details of each submission

From OMIM, SCV000039851.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

M1A, a normal variant, is believed to be the 'oldest' human PI allele, with the other common normal alleles M1V (107400.0002), M2 (107400.0003), and M3 (107400.0004) derived from M1A by single base substitutions. M2 is derived from M3; it has the same amino acid difference that distinguishes M3 from M1V but a second substitution in addition. The 4 common normal alleles are considered the 'base' from which all the other alleles are derived (see Fig. 4 in Crystal, 1989). The M1A allele has a frequency of 0.20-0.23 in US Caucasians.

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

Last Updated: Sep 25, 2021