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NM_173804.5(TMEM86B):c.253G>C (p.Ala85Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 24, 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:
RCV004218784.1

Allele description [Variation Report for NM_173804.5(TMEM86B):c.253G>C (p.Ala85Pro)]

NM_173804.5(TMEM86B):c.253G>C (p.Ala85Pro)

Genes:
PPP6R1:protein phosphatase 6 regulatory subunit 1 [Gene - OMIM - HGNC]
TMEM86B:transmembrane protein 86B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_173804.5(TMEM86B):c.253G>C (p.Ala85Pro)
HGVS:
  • NC_000019.10:g.55228236C>G
  • NM_001372013.1:c.250G>C
  • NM_173804.5:c.253G>CMANE SELECT
  • NP_001358942.1:p.Ala84Pro
  • NP_776165.3:p.Ala85Pro
  • NC_000019.9:g.55739604C>G
  • NM_173804.4:c.253G>C
Protein change:
A84P
Molecular consequence:
  • NM_001372013.1:c.250G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173804.5:c.253G>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
SCV003723020Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 24, 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, SCV003723020.2

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

Description

The c.253G>C (p.A85P) alteration is located in exon 2 (coding exon 2) of the TMEM86B gene. This alteration results from a G to C substitution at nucleotide position 253, causing the alanine (A) at amino acid position 85 to be replaced by a proline (P). 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: Oct 26, 2024