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NM_020825.4(CRAMP1):c.2191A>G (p.Ser731Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 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:
RCV004116901.1

Allele description [Variation Report for NM_020825.4(CRAMP1):c.2191A>G (p.Ser731Gly)]

NM_020825.4(CRAMP1):c.2191A>G (p.Ser731Gly)

Gene:
CRAMP1:cramped chromatin regulator homolog 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_020825.4(CRAMP1):c.2191A>G (p.Ser731Gly)
HGVS:
  • NC_000016.10:g.1656948A>G
  • NM_020825.4:c.2191A>GMANE SELECT
  • NP_065876.3:p.Ser731Gly
  • NC_000016.9:g.1706949A>G
  • NM_020825.3:c.2191A>G
Protein change:
S731G
Molecular consequence:
  • NM_020825.4:c.2191A>G - 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
SCV003595853Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 14, 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, SCV003595853.2

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

Description

The c.2191A>G (p.S731G) alteration is located in exon 9 (coding exon 9) of the CRAMP1 gene. This alteration results from a A to G substitution at nucleotide position 2191, causing the serine (S) at amino acid position 731 to be replaced by a glycine (G). 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 10, 2024