NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Jun 10, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000153424.20

Allele description [Variation Report for NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=)]

NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=)

Gene:

L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=)

HGVS:

NC_000023.11:g.153867516A>G
NG_009645.3:g.46708T>C
NM_000425.5:c.1977T>C
NM_001143963.2:c.1962T>C
NM_001278116.2:c.1977T>CMANE SELECT
NM_024003.3:c.1977T>C
NP_000416.1:p.Pro659=
NP_001137435.1:p.Pro654=
NP_001265045.1:p.Pro659=
NP_076493.1:p.Pro659=
LRG_14t1:c.1977T>C
LRG_14t2:c.1977T>C
LRG_14p1:p.Pro659=
LRG_14p2:p.Pro659=
NC_000023.10:g.153132971A>G
NM_000425.3:c.1977T>C
NM_000425.4:c.1977T>C
NP_000416.1:p.(=)
NP_000416.1:p.(=)

Links:

dbSNP: rs143382184

NCBI 1000 Genomes Browser:

rs143382184

Molecular consequence:

NM_000425.5:c.1977T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001143963.2:c.1962T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001278116.2:c.1977T>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_024003.3:c.1977T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000202925	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Apr 7, 2014)	germline	clinical testing	Citation Link,
SCV000247796	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Benign (Aug 1, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001476524	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Jun 10, 2020)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19846429, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000202925

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Apr 7, 2014)

germline

clinical testing

Citation Link,

SCV000247796

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Benign
(Aug 1, 2013)

germline

clinical testing

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

SCV001476524

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Jun 10, 2020)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.

Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, van Maarle MC, Elting MW, den Hollander NS, Hamel B, Fortuna AM, Sunde LE, Stolte-Dijkstra I, Schrander-Stumpel CT, Hofstra RM.

J Med Genet. 2010 Mar;47(3):169-75. doi: 10.1136/jmg.2009.071688. Epub 2009 Oct 20.

PubMed [citation]

PMID:: 19846429

See all PubMed Citations (3)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000202925.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Genetic Services Laboratory, University of Chicago, SCV000247796.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV001476524.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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