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NM_001136193.2(FASTKD2):c.673A>G (p.Lys225Glu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 2, 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:
RCV003206398.2

Allele description [Variation Report for NM_001136193.2(FASTKD2):c.673A>G (p.Lys225Glu)]

NM_001136193.2(FASTKD2):c.673A>G (p.Lys225Glu)

Gene:
FASTKD2:FAST kinase domains 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q33.3
Genomic location:
Preferred name:
NM_001136193.2(FASTKD2):c.673A>G (p.Lys225Glu)
HGVS:
  • NC_000002.12:g.206767366A>G
  • NG_008984.1:g.6979A>G
  • NM_001136193.2:c.673A>GMANE SELECT
  • NM_001136194.2:c.673A>G
  • NM_014929.4:c.673A>G
  • NP_001129665.1:p.Lys225Glu
  • NP_001129666.1:p.Lys225Glu
  • NP_055744.2:p.Lys225Glu
  • NC_000002.11:g.207632090A>G
  • NM_014929.3:c.673A>G
Protein change:
K225E
Molecular consequence:
  • NM_001136193.2:c.673A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136194.2:c.673A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014929.4:c.673A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003913346Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 2, 2023) 		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, SCV003913346.2

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

Description

The c.673A>G (p.K225E) alteration is located in exon 2 (coding exon 1) of the FASTKD2 gene. This alteration results from a A to G substitution at nucleotide position 673, causing the lysine (K) at amino acid position 225 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: May 1, 2024