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NM_004260.4(RECQL4):c.87C>T (p.Asp29=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 18, 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:
RCV002258631.1

Allele description [Variation Report for NM_004260.4(RECQL4):c.87C>T (p.Asp29=)]

NM_004260.4(RECQL4):c.87C>T (p.Asp29=)

Genes:
LOC130001411:ATAC-STARR-seq lymphoblastoid silent region 19699 [Gene]
RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_004260.4(RECQL4):c.87C>T (p.Asp29=)
HGVS:
  • NC_000008.11:g.144517633G>A
  • NG_016430.2:g.5194C>T
  • NG_033083.1:g.4669G>A
  • NG_033083.2:g.4643G>A
  • NM_001413017.1:c.87C>T
  • NM_001413018.1:c.87C>T
  • NM_001413019.1:c.87C>T
  • NM_001413020.1:c.87C>T
  • NM_001413021.1:c.-634C>T
  • NM_001413022.1:c.-985C>T
  • NM_001413023.1:c.-985C>T
  • NM_001413024.1:c.-882C>T
  • NM_001413025.1:c.84+68C>T
  • NM_001413027.1:c.-1047C>T
  • NM_001413028.1:c.-710C>T
  • NM_001413029.1:c.87C>T
  • NM_001413030.1:c.-1047C>T
  • NM_001413031.1:c.-1047C>T
  • NM_001413032.1:c.-944C>T
  • NM_001413033.1:c.87C>T
  • NM_001413034.1:c.-889C>T
  • NM_001413035.1:c.-882C>T
  • NM_001413036.1:c.87C>T
  • NM_001413037.1:c.-985C>T
  • NM_001413038.1:c.-985C>T
  • NM_001413039.1:c.87C>T
  • NM_001413040.1:c.-890C>T
  • NM_001413041.1:c.-1047C>T
  • NM_001413042.1:c.-985C>T
  • NM_001413043.1:c.-1254C>T
  • NM_004260.4:c.87C>TMANE SELECT
  • NP_001399946.1:p.Asp29=
  • NP_001399947.1:p.Asp29=
  • NP_001399948.1:p.Asp29=
  • NP_001399949.1:p.Asp29=
  • NP_001399958.1:p.Asp29=
  • NP_001399962.1:p.Asp29=
  • NP_001399965.1:p.Asp29=
  • NP_001399968.1:p.Asp29=
  • NP_004251.4:p.Asp29=
  • LRG_277t1:c.87C>T
  • LRG_277:g.5194C>T
  • LRG_277p1:p.Asp29=
  • NC_000008.10:g.145743017G>A
  • NM_004260.3:c.87C>T
  • NR_182090.1:n.136C>T
  • NR_182091.1:n.136C>T
  • NR_182092.1:n.136C>T
Links:
dbSNP: rs2130743879
NCBI 1000 Genomes Browser:
rs2130743879
Molecular consequence:
  • NM_001413021.1:c.-634C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413022.1:c.-985C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413023.1:c.-985C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413024.1:c.-882C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413027.1:c.-1047C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413028.1:c.-710C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413030.1:c.-1047C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413031.1:c.-1047C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413032.1:c.-944C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413034.1:c.-889C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413035.1:c.-882C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413037.1:c.-985C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413038.1:c.-985C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413040.1:c.-890C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413041.1:c.-1047C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413042.1:c.-985C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413043.1:c.-1254C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001413025.1:c.84+68C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_182090.1:n.136C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_182091.1:n.136C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_182092.1:n.136C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001413017.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001413018.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001413019.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001413020.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001413029.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001413033.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001413036.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001413039.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004260.4:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002528366Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely benign
(Aug 18, 2021) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002528366.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024