NM_173647.4(RNF149):c.103C>T (p.Leu35Phe) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 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:
RCV004340675.1

Allele description [Variation Report for NM_173647.4(RNF149):c.103C>T (p.Leu35Phe)]

NM_173647.4(RNF149):c.103C>T (p.Leu35Phe)

Genes:
LOC129934463:ATAC-STARR-seq lymphoblastoid silent region 11825 [Gene]
RNF149:ring finger protein 149 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q11.2
Genomic location:
Preferred name:
NM_173647.4(RNF149):c.103C>T (p.Leu35Phe)
HGVS:
  • NC_000002.12:g.101308486G>A
  • NG_167480.1:g.162G>A
  • NM_173647.4:c.103C>TMANE SELECT
  • NP_775918.2:p.Leu35Phe
  • NC_000002.11:g.101924948G>A
  • NM_173647.3:c.103C>T
Protein change:
L35F
Molecular consequence:
  • NM_173647.4:c.103C>T - 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
SCV004063308Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 8, 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, SCV004063308.2

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

Description

The c.103C>T (p.L35F) alteration is located in exon 1 (coding exon 1) of the RNF149 gene. This alteration results from a C to T substitution at nucleotide position 103, causing the leucine (L) at amino acid position 35 to be replaced by a phenylalanine (F). 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