U.S. flag

An official website of the United States government

NM_002880.4(RAF1):c.1323G>T (p.Gln441His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 2017
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:
RCV000493168.1

Allele description [Variation Report for NM_002880.4(RAF1):c.1323G>T (p.Gln441His)]

NM_002880.4(RAF1):c.1323G>T (p.Gln441His)

Gene:
RAF1:Raf-1 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.2
Genomic location:
Preferred name:
NM_002880.4(RAF1):c.1323G>T (p.Gln441His)
HGVS:
  • NC_000003.12:g.12590845C>A
  • NG_007467.1:g.78335G>T
  • NM_001354689.3:c.1383G>T
  • NM_001354690.3:c.1323G>T
  • NM_001354691.3:c.1080G>T
  • NM_001354692.3:c.1080G>T
  • NM_001354693.3:c.1224G>T
  • NM_001354694.3:c.1140G>T
  • NM_001354695.3:c.981G>T
  • NM_002880.4:c.1323G>TMANE SELECT
  • NP_001341618.1:p.Gln461His
  • NP_001341619.1:p.Gln441His
  • NP_001341620.1:p.Gln360His
  • NP_001341621.1:p.Gln360His
  • NP_001341622.1:p.Gln408His
  • NP_001341623.1:p.Gln380His
  • NP_001341624.1:p.Gln327His
  • NP_002871.1:p.Gln441His
  • NP_002871.1:p.Gln441His
  • LRG_413t1:c.1323G>T
  • LRG_413t2:c.1383G>T
  • LRG_413:g.78335G>T
  • LRG_413p1:p.Gln441His
  • LRG_413p2:p.Gln461His
  • NC_000003.11:g.12632344C>A
  • NM_002880.3:c.1323G>T
  • NR_148940.3:n.1767G>T
  • NR_148941.3:n.1713G>T
  • NR_148942.3:n.1652G>T
Protein change:
Q327H
Links:
dbSNP: rs1131691942
NCBI 1000 Genomes Browser:
rs1131691942
Molecular consequence:
  • NM_001354689.3:c.1383G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.3:c.1323G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.3:c.1080G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.3:c.1080G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.3:c.1224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.3:c.1140G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.3:c.981G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.4:c.1323G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.3:n.1767G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.3:n.1713G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.3:n.1652G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000583191GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 25, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000583191.5

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

Description

The Q441H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Q441H is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals; however, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022