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NM_002768.5(CHMP1A):c.570-128T>G AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 18, 2018
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:
RCV001575700.3

Allele description [Variation Report for NM_002768.5(CHMP1A):c.570-128T>G]

NM_002768.5(CHMP1A):c.570-128T>G

Gene:
CHMP1A:charged multivesicular body protein 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_002768.5(CHMP1A):c.570-128T>G
HGVS:
  • NC_000016.10:g.89646215A>C
  • NG_033005.2:g.16571T>G
  • NM_001083314.4:c.550-128T>G
  • NM_002768.5:c.570-128T>GMANE SELECT
  • NC_000016.9:g.89712623A>C
Links:
dbSNP: rs141857967
NCBI 1000 Genomes Browser:
rs141857967
Molecular consequence:
  • NM_001083314.4:c.550-128T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002768.5:c.570-128T>G - 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
SCV001802749GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Sep 18, 2018) 		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, SCV001802749.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023