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NM_002768.5(CHMP1A):c.321G>A (p.Lys107=) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 11, 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:
RCV002753979.2

Allele description [Variation Report for NM_002768.5(CHMP1A):c.321G>A (p.Lys107=)]

NM_002768.5(CHMP1A):c.321G>A (p.Lys107=)

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.321G>A (p.Lys107=)
HGVS:
  • NC_000016.10:g.89647263C>T
  • NG_033005.2:g.15523G>A
  • NM_001083314.4:c.301G>A
  • NM_002768.5:c.321G>AMANE SELECT
  • NP_001076783.1:p.Gly101Ser
  • NP_002759.2:p.Lys107=
  • NC_000016.9:g.89713671C>T
  • NM_001083314.1:c.301G>A
  • NR_046418.3:n.441G>A
Protein change:
G101S
Molecular consequence:
  • NM_001083314.4:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046418.3:n.441G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_002768.5:c.321G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003747557Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 11, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003747557.2

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

Description

The c.301G>A (p.G101S) alteration is located in exon 4 (coding exon 4) of the CHMP1A gene. This alteration results from a G to A substitution at nucleotide position 301, causing the glycine (G) at amino acid position 101 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024