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NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 4, 2022
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:
RCV002488584.1

Allele description [Variation Report for NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)]

NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)

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.2323C>G (p.Gln775Glu)
HGVS:
  • NC_000008.11:g.38413774G>C
  • NG_007729.1:g.60061C>G
  • NM_001174063.2:c.2317C>G
  • NM_001174064.2:c.2293C>G
  • NM_001174065.2:c.2317C>G
  • NM_001174066.2:c.2056C>G
  • NM_001174067.2:c.2416C>G
  • NM_001354367.2:c.2286+144C>G
  • NM_001354368.2:c.2044C>G
  • NM_001354369.2:c.2280+144C>G
  • NM_001354370.2:c.2019+144C>G
  • NM_015850.4:c.2317C>G
  • NM_023105.3:c.2056C>G
  • NM_023106.3:c.2050C>G
  • NM_023110.3:c.2323C>GMANE SELECT
  • NP_001167534.1:p.Gln773Glu
  • NP_001167535.1:p.Gln765Glu
  • NP_001167536.1:p.Gln773Glu
  • NP_001167537.1:p.Gln686Glu
  • NP_001167538.1:p.Gln806Glu
  • NP_001341297.1:p.Gln682Glu
  • NP_056934.2:p.Gln773Glu
  • NP_075593.1:p.Gln686Glu
  • NP_075594.1:p.Gln684Glu
  • NP_075598.2:p.Gln775Glu
  • LRG_993t1:c.2323C>G
  • LRG_993:g.60061C>G
  • NC_000008.10:g.38271292G>C
  • NM_023110.2:c.2323C>G
Protein change:
Q682E
Links:
dbSNP: rs1232665126
NCBI 1000 Genomes Browser:
rs1232665126
Molecular consequence:
  • NM_001354367.2:c.2286+144C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354369.2:c.2280+144C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354370.2:c.2019+144C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001174063.2:c.2317C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.2293C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.2317C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174066.2:c.2056C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.2:c.2416C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354368.2:c.2044C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.2317C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023105.3:c.2056C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023106.3:c.2050C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.3:c.2323C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)
Synonyms:
Kallmann syndrome 2; HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA; HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007844; MedGen: C1563720; Orphanet: 478; OMIM: 147950
Name:
Jackson-Weiss syndrome (JWS)
Synonyms:
Craniosynostosis, midfacial hypoplasia, and foot abnormalities
Identifiers:
MONDO: MONDO:0007400; MedGen: C0795998; Orphanet: 1540; OMIM: 123150
Name:
Pfeiffer syndrome (ACS5)
Synonyms:
ACS V; Pfeiffer type acrocephalosyndactyly; Acrocephalosyndactyly, type 5
Identifiers:
MONDO: MONDO:0007043; MedGen: C0220658; Orphanet: 710; OMIM: 101600
Name:
Hartsfield-Bixler-Demyer syndrome (HRTFDS)
Synonyms:
Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate; Hartsfield syndrome
Identifiers:
MONDO: MONDO:0014196; MedGen: C1845146; Orphanet: 2117; OMIM: 615465
Name:
Osteoglophonic dysplasia (OGD)
Synonyms:
Osteoglophonic dwarfism; Fairbank-Keats syndrome
Identifiers:
MONDO: MONDO:0008150; MedGen: C0432283; Orphanet: 2645; OMIM: 166250
Name:
Trigonocephaly 1 (TRIGNO1)
Identifiers:
MONDO: MONDO:0008603; MedGen: C0432122; Orphanet: 3366; OMIM: 190440
Name:
Encephalocraniocutaneous lipomatosis (ECCL)
Identifiers:
MONDO: MONDO:0013074; MedGen: C0406612; Orphanet: 2396; OMIM: 613001

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002778143Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 4, 2022) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002778143.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024