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NM_000550.3(TYRP1):c.1408+3G>C AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 15, 2019
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:
RCV001756871.2

Allele description [Variation Report for NM_000550.3(TYRP1):c.1408+3G>C]

NM_000550.3(TYRP1):c.1408+3G>C

Genes:
LURAP1L-AS1:LURAP1L antisense RNA 1 [Gene - HGNC]
TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p23
Genomic location:
Preferred name:
NM_000550.3(TYRP1):c.1408+3G>C
HGVS:
  • NC_000009.12:g.12708146G>C
  • NG_011705.1:g.19761G>C
  • NM_000550.3:c.1408+3G>CMANE SELECT
  • NC_000009.11:g.12708146G>C
Links:
dbSNP: rs2118273444
NCBI 1000 Genomes Browser:
rs2118273444
Molecular consequence:
  • NM_000550.3:c.1408+3G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001995104GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 15, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001995104.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Not observed in large population cohorts (Lek et al., 2016)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023