NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Dec 1, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000968459.5

Allele description [Variation Report for NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln)]

NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln)

Gene:
F13A1:coagulation factor XIII A chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p25.1
Genomic location:
Preferred name:
NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln)
HGVS:
  • NC_000006.12:g.6167600A>T
  • NG_008107.1:g.158092T>A
  • NM_000129.4:c.1766T>AMANE SELECT
  • NP_000120.2:p.Leu589Gln
  • LRG_549t1:c.1766T>A
  • LRG_549:g.158092T>A
  • NC_000006.11:g.6167833A>T
  • NM_000129.3:c.1766T>A
Protein change:
L589Q
Links:
dbSNP: rs5983
NCBI 1000 Genomes Browser:
rs5983
Molecular consequence:
  • NM_000129.4:c.1766T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001115915Invitaecriteria provided, single submitter
Benign
(Dec 31, 2019)
germlineclinical testing

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

SCV001249732CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Dec 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001115915.2

#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 CeGaT Praxis fuer Humangenetik Tuebingen, SCV001249732.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 6, 2021

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