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NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
Mar 4, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000151831.13

Allele description [Variation Report for NM_000295.5(SERPINA1):c.840T>C (p.Asp280=)]

NM_000295.5(SERPINA1):c.840T>C (p.Asp280=)

Gene:
SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=)
HGVS:
  • NC_000014.9:g.94380948A>G
  • NG_008290.1:g.14745T>C
  • NM_000295.5:c.840T>CMANE SELECT
  • NM_001002235.3:c.840T>C
  • NM_001002236.3:c.840T>C
  • NM_001127700.2:c.840T>C
  • NM_001127701.2:c.840T>C
  • NM_001127702.2:c.840T>C
  • NM_001127703.2:c.840T>C
  • NM_001127704.2:c.840T>C
  • NM_001127705.2:c.840T>C
  • NM_001127706.2:c.840T>C
  • NM_001127707.2:c.840T>C
  • NP_000286.3:p.Asp280=
  • NP_001002235.1:p.Asp280=
  • NP_001002236.1:p.Asp280=
  • NP_001121172.1:p.Asp280=
  • NP_001121173.1:p.Asp280=
  • NP_001121173.1:p.Asp280=
  • NP_001121174.1:p.Asp280=
  • NP_001121175.1:p.Asp280=
  • NP_001121176.1:p.Asp280=
  • NP_001121177.1:p.Asp280=
  • NP_001121178.1:p.Asp280=
  • NP_001121179.1:p.Asp280=
  • LRG_575t1:c.840T>C
  • LRG_575:g.14745T>C
  • LRG_575p1:p.Asp280=
  • NC_000014.8:g.94847285A>G
  • NM_000295.4:c.840T>C
  • NM_001127701.1:c.840T>C
  • p.=
  • p.Asp280Asp
Links:
dbSNP: rs1049800
NCBI 1000 Genomes Browser:
rs1049800
Molecular consequence:
  • NM_000295.5:c.840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001002235.3:c.840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001002236.3:c.840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127700.2:c.840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127701.2:c.840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127702.2:c.840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127703.2:c.840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127704.2:c.840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127705.2:c.840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127706.2:c.840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127707.2:c.840T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
4

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000200304Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Feb 21, 2013)
germlineclinical testing

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

SCV000303525PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlineclinical testing

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

SCV000340032Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Mar 4, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided44not providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000200304.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

Asp280Asp in exon 5 of SERPINA1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 11.9% (524/4406) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1049800).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided4not provided

From PreventionGenetics, part of Exact Sciences, SCV000303525.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Eurofins Ntd Llc (ga), SCV000340032.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 10, 2024