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NM_019616.4(F7):c.1085C>T (p.Thr362Met) AND F7-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 25, 2024
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:
RCV004752909.1

Allele description [Variation Report for NM_019616.4(F7):c.1085C>T (p.Thr362Met)]

NM_019616.4(F7):c.1085C>T (p.Thr362Met)

Gene:
F7:coagulation factor VII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_019616.4(F7):c.1085C>T (p.Thr362Met)
HGVS:
  • NC_000013.11:g.113118758C>T
  • NG_009258.1:g.960C>T
  • NG_009262.1:g.17968C>T
  • NM_000131.4:c.1151C>T
  • NM_001267554.2:c.899C>T
  • NM_019616.4:c.1085C>TMANE SELECT
  • NP_000122.1:p.Thr384Met
  • NP_001254483.1:p.Thr300Met
  • NP_062562.1:p.Thr362Met
  • LRG_554t1:c.1151C>T
  • LRG_548:g.960C>T
  • LRG_554:g.17968C>T
  • LRG_554p1:p.Thr384Met
  • NC_000013.10:g.113773072C>T
  • NM_019616.4:c.1085C>T
  • NR_051961.2:n.1169C>T
  • p.Thr384Met
Protein change:
T300M
Links:
dbSNP: rs531225271
NCBI 1000 Genomes Browser:
rs531225271
Molecular consequence:
  • NM_000131.4:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267554.2:c.899C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019616.4:c.1085C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_051961.2:n.1169C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
F7-related disorder
Synonyms:
F7-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005353332PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Mar 25, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005353332.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The F7 c.1151C>T variant is predicted to result in the amino acid substitution p.Thr384Met. This variant has also been described in the literature as p.Thr324Met. This variant has been reported in a cohort of individuals with factor VII deficiency (Herrmann et al. 2009. PubMed ID: 18976247). A second study showed that two individuals homozygous for this variant had moderately deficient levels of factor VII and were clinically asymptomatic (Patient 8 and 9, Mota et al. 2009. PubMed ID: 19751712). A synonymous variant at the same position c.1152G>A (p.Thr384Thr) and several additional variants in neighboring residues have been associated with factor VII deficiency (p.Met387Val, p.Met387Thr, p.Met387Ile, p.Phe388Tyr and p.Phe388Ser) (Herrmann et al. 2009. PubMed ID: 18976247; Table 1, Giansily-Blaizot et al. 2001. PubMed ID: 11313743; Elmahmoudi et al. 2012. PubMed ID: 22873696; Bharadwaj et al. 1996. PubMed ID: 8940045). This variant is reported in 0.049% of alleles in individuals of South Asian descent in gnomAD. This variant is interpreted as likely pathogenic.

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

Last Updated: May 16, 2025