U.S. flag

An official website of the United States government

NM_001127671.2(LIFR):c.3089C>T (p.Pro1030Leu) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 1, 2020
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:
RCV001374567.1

Allele description [Variation Report for NM_001127671.2(LIFR):c.3089C>T (p.Pro1030Leu)]

NM_001127671.2(LIFR):c.3089C>T (p.Pro1030Leu)

Gene:
LIFR:LIF receptor subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.1
Genomic location:
Preferred name:
NM_001127671.2(LIFR):c.3089C>T (p.Pro1030Leu)
HGVS:
  • NC_000005.10:g.38481800G>A
  • NG_011817.1:g.118606C>T
  • NM_001127671.2:c.3089C>TMANE SELECT
  • NM_001364297.2:c.3089C>T
  • NM_001364298.2:c.3056C>T
  • NM_002310.6:c.3089C>T
  • NP_001121143.1:p.Pro1030Leu
  • NP_001351226.1:p.Pro1030Leu
  • NP_001351227.1:p.Pro1019Leu
  • NP_002301.1:p.Pro1030Leu
  • NC_000005.9:g.38481902G>A
  • NM_001127671.1:c.3089C>T
Protein change:
P1019L
Links:
dbSNP: rs1439167190
NCBI 1000 Genomes Browser:
rs1439167190
Molecular consequence:
  • NM_001127671.2:c.3089C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364297.2:c.3089C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364298.2:c.3056C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002310.6:c.3089C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001438646Molecular Oncology Research Center, Barretos Cancer Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 1, 2020) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedresearch

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 Molecular Oncology Research Center, Barretos Cancer Hospital, SCV001438646.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Feb 28, 2024