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NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro) AND Rothmund-Thomson syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 22, 2022
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:
RCV003154242.2

Allele description [Variation Report for NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro)]

NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro)

Gene:
DNA2:DNA replication helicase/nuclease 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro)
HGVS:
  • NC_000010.11:g.68470095A>G
  • NG_034247.1:g.6879T>C
  • NM_001080449.3:c.143T>CMANE SELECT
  • NP_001073918.2:p.Leu48Pro
  • NC_000010.10:g.70229852A>G
  • NR_102264.2:n.232T>C
Protein change:
L48P; LEU48PRO
Links:
OMIM: 601810.0013
Molecular consequence:
  • NM_001080449.3:c.143T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_102264.2:n.232T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Rothmund-Thomson syndrome (RTS)
Synonyms:
Poikiloderma Congenitale; Poikiloderma of Rothmund-Thomson
Identifiers:
MONDO: MONDO:0010002; MedGen: C0032339; Orphanet: 2909; OMIM: PS268400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002581922Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 22, 2022) 		maternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not 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 Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, SCV002581922.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

Very rare variant, in-silico prediction of damage, in trans with the recurrent splicing variant in 1 proband with classic clinical presentation of Rothmund-Thomson Syndrome with congenital cataracts and severe growth restriction (DNA related RTS).Likely Pathogenic (PM2, PP3, PM3, PP4)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024