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NM_001017979.3(RAB28):c.584A>C (p.Lys195Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 7, 2023
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:
RCV004443070.1

Allele description [Variation Report for NM_001017979.3(RAB28):c.584A>C (p.Lys195Thr)]

NM_001017979.3(RAB28):c.584A>C (p.Lys195Thr)

Gene:
RAB28:RAB28, member RAS oncogene family [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p15.33
Genomic location:
Preferred name:
NM_001017979.3(RAB28):c.584A>C (p.Lys195Thr)
HGVS:
  • NC_000004.12:g.13368640T>G
  • NG_033891.1:g.120726A>C
  • NM_001017979.3:c.584A>CMANE SELECT
  • NM_001159601.2:c.*42A>C
  • NM_004249.4:c.*16A>C
  • NP_001017979.1:p.Lys195Thr
  • NC_000004.11:g.13370264T>G
  • NM_001017979.2:c.584A>C
Protein change:
K195T
Molecular consequence:
  • NM_001159601.2:c.*42A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004249.4:c.*16A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001017979.3:c.584A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004934266Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 7, 2023) 		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, SCV004934266.1

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

Description

The c.584A>C (p.K195T) alteration is located in exon 7 (coding exon 7) of the RAB28 gene. This alteration results from a A to C substitution at nucleotide position 584, causing the lysine (K) at amino acid position 195 to be replaced by a threonine (T). 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: May 7, 2024