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NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 30, 2021
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:
RCV002477044.1

Allele description [Variation Report for NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)]

NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)

Genes:
HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)
Other names:
p.K170*:AAG>TAG; NM_005343.3(HRAS):c.508A>T
HGVS:
  • NC_000011.10:g.532698T>A
  • NG_007666.1:g.7853A>T
  • NM_001130442.3:c.508A>T
  • NM_001318054.2:c.271A>T
  • NM_005343.4:c.508A>TMANE SELECT
  • NM_176795.5:c.*77A>T
  • NP_001123914.1:p.Lys170Ter
  • NP_001304983.1:p.Lys91Ter
  • NP_005334.1:p.Lys170Ter
  • LRG_506t1:c.508A>T
  • LRG_506:g.7853A>T
  • LRG_506p1:p.Lys170Ter
  • NC_000011.9:g.532698T>A
  • NM_005343.2:c.508A>T
  • NM_176795.3:c.*77A>T
Protein change:
K170*
Links:
dbSNP: rs372936166
NCBI 1000 Genomes Browser:
rs372936166
Molecular consequence:
  • NM_176795.5:c.*77A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001130442.3:c.508A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001318054.2:c.271A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005343.4:c.508A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Large congenital melanocytic nevus (CMNS)
Synonyms:
Giant pigmented hairy nevus; Giant hairy nevus; Bathing trunk nevus; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0044792; MedGen: C1842036; Orphanet: 626; OMIM: 137550; Human Phenotype Ontology: HP:0005600
Name:
Linear nevus sebaceous syndrome
Synonyms:
SFM syndrome; Jadassohn nevus phakomatosis; Nevus sebaceus of Jadassohn; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008097; MedGen: C4552097; Orphanet: 2612; OMIM: 163200; Human Phenotype Ontology: HP:0010817
Name:
Malignant tumor of urinary bladder
Synonyms:
Urinary bladder cancer; Urinary Bladder Neoplasms; Bladder cancer
Identifiers:
MONDO: MONDO:0001187; MedGen: C0005684; OMIM: 109800
Name:
Costello syndrome (CSTLO)
Synonyms:
Faciocutaneoskeletal syndrome; FCS syndrome
Identifiers:
MONDO: MONDO:0009026; MedGen: C0587248; Orphanet: 3071; OMIM: 218040
Name:
Epidermal nevus
Synonyms:
NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC; Nevus, epidermal, somatic
Identifiers:
MONDO: MONDO:0008093; MedGen: C0334082; Orphanet: 79414; OMIM: 162900; Human Phenotype Ontology: HP:0010816
Name:
Thyroid cancer, nonmedullary, 2 (NMTC2)
Synonyms:
THYROID CARCINOMA, FOLLICULAR; Thyroid carcinoma, follicular, somatic; THYROID CANCER, NONMEDULLARY, 2, SUSCEPTIBILITY TO
Identifiers:
MONDO: MONDO:0008566; MedGen: C4225426; OMIM: 188470

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002790396Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 30, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

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 Fulgent Genetics, Fulgent Genetics, SCV002790396.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024