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NM_002227.4(JAK1):c.3402C>G (p.Phe1134Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 16, 2024
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:
RCV004401073.1

Allele description [Variation Report for NM_002227.4(JAK1):c.3402C>G (p.Phe1134Leu)]

NM_002227.4(JAK1):c.3402C>G (p.Phe1134Leu)

Gene:
JAK1:Janus kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_002227.4(JAK1):c.3402C>G (p.Phe1134Leu)
HGVS:
  • NC_000001.11:g.64834625G>C
  • NG_023402.2:g.238122C>G
  • NM_001320923.2:c.3402C>G
  • NM_001321852.2:c.3402C>G
  • NM_001321853.2:c.3402C>G
  • NM_001321854.2:c.3402C>G
  • NM_001321855.2:c.3402C>G
  • NM_001321856.2:c.3402C>G
  • NM_001321857.2:c.3399C>G
  • NM_002227.4:c.3402C>GMANE SELECT
  • NP_001307852.1:p.Phe1134Leu
  • NP_001308781.1:p.Phe1134Leu
  • NP_001308782.1:p.Phe1134Leu
  • NP_001308783.1:p.Phe1134Leu
  • NP_001308784.1:p.Phe1134Leu
  • NP_001308785.1:p.Phe1134Leu
  • NP_001308786.1:p.Phe1133Leu
  • NP_002218.2:p.Phe1134Leu
  • LRG_1398t1:c.3402C>G
  • LRG_1398:g.238122C>G
  • LRG_1398p1:p.Phe1134Leu
  • NC_000001.10:g.65300308G>C
  • NM_002227.2:c.3402C>G
Protein change:
F1133L
Molecular consequence:
  • NM_001320923.2:c.3402C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321852.2:c.3402C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321853.2:c.3402C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321854.2:c.3402C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321855.2:c.3402C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321856.2:c.3402C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321857.2:c.3399C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002227.4:c.3402C>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
SCV004890425Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 16, 2024) 		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, SCV004890425.1

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

Description

The c.3402C>G (p.F1134L) alteration is located in exon 25 (coding exon 24) of the JAK1 gene. This alteration results from a C to G substitution at nucleotide position 3402, causing the phenylalanine (F) at amino acid position 1134 to be replaced by a leucine (L). 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 7, 2024