NM_000129.3(F13A1):c.1352_1353del (p.His451fs) AND Factor XIII, A subunit, deficiency of

Clinical significance:Likely pathogenic (Last evaluated: May 16, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000714480.1

Allele description [Variation Report for NM_000129.3(F13A1):c.1352_1353del (p.His451fs)]

NM_000129.3(F13A1):c.1352_1353del (p.His451fs)

Gene:
F13A1:coagulation factor XIII A chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p25.1
Genomic location:
Preferred name:
NM_000129.3(F13A1):c.1352_1353del (p.His451fs)
HGVS:
  • NC_000006.12:g.6182094_6182095del
  • NG_008107.1:g.143597_143598del
  • NM_000129.3:c.1352_1353del
  • NP_000120.2:p.His451fs
  • LRG_549t1:c.1352_1353del
  • LRG_549:g.143597_143598del
  • LRG_549p1:p.His451fs
  • NC_000006.11:g.6182327_6182328del
  • NM_000129.3:c.1352_1353delAT
Protein change:
H451fs
Links:
dbSNP: rs1561645895
NCBI 1000 Genomes Browser:
rs1561645895
Molecular consequence:
  • NM_000129.3:c.1352_1353del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Factor XIII, A subunit, deficiency of
Synonyms:
Factor XIII subunit A deficiency; Reduced factor XIII, subunit A
Identifiers:
MONDO: MONDO:0013187; MedGen: C2750514; Orphanet: 331; OMIM: 613225; Human Phenotype Ontology: HP:0040233

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000804842Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diegono assertion criteria providedLikely pathogenic
(May 16, 2018)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV000804842.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

This patient is homozygous for this variant in the F13A1 gene. This frameshifting variant in exon 11 of 15 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. However, numerous frameshifting variants downstream of the p.His451ArgfsTer29 variant have been reported in the Human Gene Mutation Database (HGMD) (PMID:28520207). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.1352_1353delAT (p.His451ArgfsTer29) variant is classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 28, 2021

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