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NM_206937.2(LIG4):c.1673A>C (p.Gln558Pro) AND Papillary thyroid carcinoma

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 26, 2017
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:
RCV000761169.2

Allele description [Variation Report for NM_206937.2(LIG4):c.1673A>C (p.Gln558Pro)]

NM_206937.2(LIG4):c.1673A>C (p.Gln558Pro)

Gene:
LIG4:DNA ligase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q33.3
Genomic location:
Preferred name:
NM_206937.2(LIG4):c.1673A>C (p.Gln558Pro)
HGVS:
  • NC_000013.11:g.108209596T>G
  • NG_007396.1:g.10939A>C
  • NM_001098268.2:c.1673A>C
  • NM_001330595.2:c.1472A>C
  • NM_001352598.2:c.1673A>C
  • NM_001352599.2:c.1673A>C
  • NM_001352600.2:c.1673A>C
  • NM_001352601.2:c.1673A>C
  • NM_001352602.2:c.1673A>C
  • NM_001352603.1:c.1673A>C
  • NM_001352604.2:c.1709A>C
  • NM_001379095.1:c.1673A>C
  • NM_002312.3:c.1673A>C
  • NM_206937.2:c.1673A>CMANE SELECT
  • NP_001091738.1:p.Gln558Pro
  • NP_001317524.1:p.Gln491Pro
  • NP_001339527.1:p.Gln558Pro
  • NP_001339528.1:p.Gln558Pro
  • NP_001339529.1:p.Gln558Pro
  • NP_001339530.1:p.Gln558Pro
  • NP_001339531.1:p.Gln558Pro
  • NP_001339532.1:p.Gln558Pro
  • NP_001339533.1:p.Gln570Pro
  • NP_001366024.1:p.Gln558Pro
  • NP_002303.2:p.Gln558Pro
  • NP_996820.1:p.Gln558Pro
  • LRG_79t1:c.1673A>C
  • LRG_79:g.10939A>C
  • LRG_79p1:p.Gln558Pro
  • NC_000013.10:g.108861944T>G
Protein change:
Q491P
Links:
dbSNP: rs751409106
NCBI 1000 Genomes Browser:
rs751409106
Molecular consequence:
  • NM_001098268.2:c.1673A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330595.2:c.1472A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352598.2:c.1673A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352599.2:c.1673A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352600.2:c.1673A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352601.2:c.1673A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352602.2:c.1673A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352603.1:c.1673A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352604.2:c.1709A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379095.1:c.1673A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002312.3:c.1673A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206937.2:c.1673A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Papillary thyroid carcinoma
Synonyms:
NONMEDULLARY THYROID CARCINOMA, PAPILLARY; Thyroid carcinoma, papillary, somatic; Thyroid gland papillary carcinoma
Identifiers:
MONDO: MONDO:0005075; MeSH: D000077273; MedGen: C0238463; Orphanet: 146; Human Phenotype Ontology: HP:0002895

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000891085St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 26, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV000891085.1

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

Last Updated: Nov 29, 2022