NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Feb 28, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000177331.6

Allele description [Variation Report for NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)]

NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)

Gene:
FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.23
Genomic location:
Preferred name:
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu)
HGVS:
  • NC_000008.11:g.38429720G>A
  • NG_007729.1:g.44115C>T
  • NM_001174063.2:c.320C>T
  • NM_001174064.2:c.296C>T
  • NM_001174065.2:c.320C>T
  • NM_001174066.2:c.92-1285C>T
  • NM_001174067.2:c.419C>T
  • NM_001354367.2:c.320C>T
  • NM_001354368.2:c.92-1285C>T
  • NM_001354369.2:c.320C>T
  • NM_001354370.2:c.92-1285C>T
  • NM_015850.4:c.320C>T
  • NM_023105.3:c.92-1285C>T
  • NM_023106.3:c.92-1285C>T
  • NM_023110.2:c.320C>T
  • NM_023110.3:c.320C>TMANE SELECT
  • NP_001167534.1:p.Ser107Leu
  • NP_001167535.1:p.Ser99Leu
  • NP_001167536.1:p.Ser107Leu
  • NP_001167538.1:p.Ser140Leu
  • NP_001341296.1:p.Ser107Leu
  • NP_001341298.1:p.Ser107Leu
  • NP_056934.2:p.Ser107Leu
  • NP_075598.2:p.Ser107Leu
  • NP_075598.2:p.Ser107Leu
  • LRG_993t1:c.320C>T
  • LRG_993:g.44115C>T
  • LRG_993p1:p.Ser107Leu
  • NC_000008.10:g.38287238G>A
Protein change:
S107L
Links:
dbSNP: rs140382957
NCBI 1000 Genomes Browser:
rs140382957
Molecular consequence:
  • NM_001174066.2:c.92-1285C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354368.2:c.92-1285C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354370.2:c.92-1285C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_023105.3:c.92-1285C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_023106.3:c.92-1285C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001174063.2:c.320C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.320C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.2:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354367.2:c.320C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354369.2:c.320C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.320C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.2:c.320C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.3:c.320C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000229178EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jan 26, 2015)
germlineclinical testing

Citation Link,

SCV000513033GeneDxcriteria provided, single submitter
Benign
(May 9, 2016)
germlineclinical testing

Citation Link,

SCV000603704ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Feb 28, 2017)
germlineclinical testing

Citation Link,

SCV001919202Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000229178.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV000513033.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603704.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001919202.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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