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NM_002900.3(RBP3):c.1636_1637delinsAA (p.Ala546Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 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:
RCV001209928.8

Allele description [Variation Report for NM_002900.3(RBP3):c.1636_1637delinsAA (p.Ala546Asn)]

NM_002900.3(RBP3):c.1636_1637delinsAA (p.Ala546Asn)

Gene:
RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
10q11.22
Genomic location:
Preferred name:
NM_002900.3(RBP3):c.1636_1637delinsAA (p.Ala546Asn)
HGVS:
  • NC_000010.11:g.47350120_47350121delinsAA
  • NG_029718.1:g.6750_6751delinsAA
  • NM_002900.3:c.1636_1637delinsAAMANE SELECT
  • NP_002891.1:p.Ala546Asn
  • NC_000010.10:g.48389241_48389242delinsTT
  • NM_002900.2:c.1636_1637delinsAA
Protein change:
A546N
Links:
dbSNP: rs1836938847
NCBI 1000 Genomes Browser:
rs1836938847
Molecular consequence:
  • NM_002900.3:c.1636_1637delinsAA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001381384Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 13, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001381384.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces alanine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 546 of the RBP3 protein (p.Ala546Asn). This variant has not been reported in the literature in individuals affected with RBP3-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 940355).

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

Last Updated: Sep 29, 2024