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NM_024622.6(FASTKD1):c.1160T>C (p.Phe387Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 21, 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:
RCV004349628.1

Allele description [Variation Report for NM_024622.6(FASTKD1):c.1160T>C (p.Phe387Ser)]

NM_024622.6(FASTKD1):c.1160T>C (p.Phe387Ser)

Gene:
FASTKD1:FAST kinase domains 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_024622.6(FASTKD1):c.1160T>C (p.Phe387Ser)
HGVS:
  • NC_000002.12:g.169555178A>G
  • NM_001281476.3:c.1160T>C
  • NM_001322046.2:c.1160T>C
  • NM_001322048.2:c.1091T>C
  • NM_001322049.2:c.1091T>C
  • NM_024622.6:c.1160T>CMANE SELECT
  • NP_001268405.1:p.Phe387Ser
  • NP_001308975.1:p.Phe387Ser
  • NP_001308977.1:p.Phe364Ser
  • NP_001308978.1:p.Phe364Ser
  • NP_078898.3:p.Phe387Ser
  • NC_000002.11:g.170411688A>G
  • NM_024622.3:c.1160T>C
  • NR_104020.3:n.1499T>C
Protein change:
F364S
Molecular consequence:
  • NM_001281476.3:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322046.2:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322048.2:c.1091T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322049.2:c.1091T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024622.6:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104020.3:n.1499T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004071553Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 21, 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, SCV004071553.2

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

Description

The c.1160T>C (p.F387S) alteration is located in exon 7 (coding exon 6) of the FASTKD1 gene. This alteration results from a T to C substitution at nucleotide position 1160, causing the phenylalanine (F) at amino acid position 387 to be replaced by a serine (S). 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 3, 2024