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NM_001039213.4(CEACAM16):c.517G>A (p.Val173Ile) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 4, 2020
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:
RCV001195412.4

Allele description [Variation Report for NM_001039213.4(CEACAM16):c.517G>A (p.Val173Ile)]

NM_001039213.4(CEACAM16):c.517G>A (p.Val173Ile)

Genes:
CEACAM16:CEA cell adhesion molecule 16, tectorial membrane component [Gene - OMIM - HGNC]
CEACAM16-AS1:CEACAM16, CEACAM19 and PVR antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_001039213.4(CEACAM16):c.517G>A (p.Val173Ile)
HGVS:
  • NC_000019.10:g.44704152G>A
  • NG_032692.2:g.10002G>A
  • NM_001039213.4:c.517G>AMANE SELECT
  • NP_001034302.2:p.Val173Ile
  • LRG_1283t1:c.517G>A
  • LRG_1283:g.10002G>A
  • LRG_1283p1:p.Val173Ile
  • NC_000019.9:g.45207422G>A
Protein change:
V173I
Links:
dbSNP: rs756280582
NCBI 1000 Genomes Browser:
rs756280582
Molecular consequence:
  • NM_001039213.4:c.517G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001365762Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Mar 4, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV001365762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Val173Ile variant in CEACAM16 is classified as likely benign due to a lack of conservation across species. More than 4 mammals (bushbaby, Chinese tree shrew, rabbit and pika) carry an Isoleucine (Ile) at this position despite high nearby amino acid conservation. In addition, computational prediction tools predict that this variant does not impact the protein. It was absent from large population studies. ACMG/AMP Criteria applied: PM2, BP4_Strong.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

Last Updated: Oct 14, 2023