NM_001530.4(HIF1A):c.148G>C (p.Val50Leu) AND Maffucci syndrome

Germline classification:: Likely pathogenic (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002468421.1

Allele description [Variation Report for NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)]

NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)

Genes:

HIF1A-AS3:HIF1A antisense RNA 3 [Gene - HGNC]
HIF1A:hypoxia inducible factor 1 subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.2

Genomic location:

Preferred name:

NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)

HGVS:

NC_000014.9:g.61720494G>C
NG_029606.1:g.30094G>C
NM_001243084.2:c.220G>C
NM_001530.4:c.148G>CMANE SELECT
NM_181054.3:c.148G>C
NP_001230013.1:p.Val74Leu
NP_001521.1:p.Val50Leu
NP_851397.1:p.Val50Leu
NC_000014.8:g.62187212G>C

Protein change:

V50L

Molecular consequence:

NM_001243084.2:c.220G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001530.4:c.148G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_181054.3:c.148G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Maffucci syndrome
Synonyms:: MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE; Dyschondrodysplasia with Hemangiomas; Enchondromatosis with Multiple Cavernous Hemangiomas; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013808; MedGen: C0024454; Orphanet: 163634; OMIM: 614569

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002764241	Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002764241

Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

maternal

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

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 Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine, SCV002764241.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2022

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