U.S. flag

An official website of the United States government

NM_001144877.3(SCAI):c.904C>G (p.Gln302Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 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:
RCV004280024.1

Allele description [Variation Report for NM_001144877.3(SCAI):c.904C>G (p.Gln302Glu)]

NM_001144877.3(SCAI):c.904C>G (p.Gln302Glu)

Gene:
SCAI:suppressor of cancer cell invasion [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q33.3
Genomic location:
Preferred name:
NM_001144877.3(SCAI):c.904C>G (p.Gln302Glu)
HGVS:
  • NC_000009.12:g.125003528G>C
  • NG_016620.1:g.145032C>G
  • NM_001144877.3:c.904C>GMANE SELECT
  • NM_173690.5:c.973C>G
  • NP_001138349.1:p.Gln302Glu
  • NP_775961.2:p.Gln325Glu
  • NC_000009.11:g.127765807G>C
  • NM_173690.4:c.973C>G
Protein change:
Q302E
Molecular consequence:
  • NM_001144877.3:c.904C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173690.5:c.973C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003903367Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Feb 28, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003903367.2

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

Description

The c.973C>G (p.Q325E) alteration is located in exon 11 (coding exon 11) of the SCAI gene. This alteration results from a C to G substitution at nucleotide position 973, causing the glutamine (Q) at amino acid position 325 to be replaced by a glutamic acid (E). 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 24, 2024