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NM_001039397.3(TBC1D28):c.19C>T (p.Pro7Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 13, 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:
RCV004225775.1

Allele description [Variation Report for NM_001039397.3(TBC1D28):c.19C>T (p.Pro7Ser)]

NM_001039397.3(TBC1D28):c.19C>T (p.Pro7Ser)

Gene:
TBC1D28:TBC1 domain family member 28 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_001039397.3(TBC1D28):c.19C>T (p.Pro7Ser)
HGVS:
  • NC_000017.11:g.18641334G>A
  • NM_001039397.3:c.19C>TMANE SELECT
  • NP_001034486.2:p.Pro7Ser
  • NC_000017.10:g.18544647G>A
  • NM_001039397.2:c.19C>T
Protein change:
P7S
Molecular consequence:
  • NM_001039397.3:c.19C>T - 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
SCV003738492Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 13, 2021) 		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, SCV003738492.2

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

Description

The c.19C>T (p.P7S) alteration is located in exon 4 (coding exon 1) of the TBC1D28 gene. This alteration results from a C to T substitution at nucleotide position 19, causing the proline (P) at amino acid position 7 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: Nov 3, 2024